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GENE - TERM ANNOTATION REPORT

29 Annotations Found.

An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Chipman SD, etal., Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1701-5.
  • The annotation has been inferred from sequence orthology with Col1a2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Chipman SD, etal., Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1701-5.
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: DNA:deletion:exon:3983del (mouse)

  • This annotation was curated on 2018-04-28 09:00:33.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Superti-Furga A, etal., J Med Genet 1989 Jun;26(6):358-62.
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Superti-Furga A, etal., J Med Genet 1989 Jun;26(6):358-62.
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: DNA:mutations, haplotype (human)

  • This annotation was curated on 2018-04-28 09:00:41.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Lee KS, etal., Hum Mutat. 2006 Jun;27(6):599.
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Lee KS, etal., Hum Mutat. 2006 Jun;27(6):599.
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: DNA:snp:cds:p.G328S (human)

  • This annotation was curated on 2018-04-28 09:00:44.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta
  • Original References(s): PMID:28492532

  • This annotation was curated on 2019-10-15 09:03:04.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Yang Z, etal., Genet Mol Res. 2011 Feb 8;10(1):177-85. doi: 10.4238/vol10-1gmr984.
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Yang Z, etal., Genet Mol Res. 2011 Feb 8;10(1):177-85. doi: 10.4238/vol10-1gmr984.
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: DNA:mutation:exon:c.87T > C(human)

  • This annotation was curated on 2018-04-28 09:01:33.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-10-15 09:02:38.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
  • Original References(s): PMID:3403536

  • This annotation was curated on 2019-10-15 09:01:23.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:17078022, PMID:22589248, PMID:25741868, PMID:28492532, PMID:7860070, PMID:9272740

  • This annotation was curated on 2019-10-15 08:57:55.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease

  • This annotation was curated on 2019-10-15 09:01:50.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta
  • Original References(s): PMID:11317364

  • This annotation was curated on 2019-10-15 08:57:36.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta
  • Original References(s): PMID:18996919, PMID:28492532

  • This annotation was curated on 2019-10-15 08:57:36.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:25944380, PMID:28492532

  • This annotation was curated on 2019-10-15 08:57:21.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:26467025, PMID:28492532

  • This annotation was curated on 2019-10-15 09:02:16.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:11317364, PMID:16705691, PMID:17078022, PMID:21667357, PMID:25944380

  • This annotation was curated on 2019-10-15 08:59:06.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta
  • Original References(s): PMID:17078022, PMID:18311573, PMID:19344236, PMID:21667357, PMID:26177859, PMID:26467025, PMID:28378289, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532

  • This annotation was curated on 2019-10-15 08:57:37.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta
  • Original References(s): PMID:15077201, PMID:17078022, PMID:2010058, PMID:21344539, PMID:21801164, PMID:21912751, PMID:24140640, PMID:24668929, PMID:25944380, PMID:2824475, PMID:28625337, PMID:28916840, PMID:458828, PMID:8071956, PMID:9295084, PMID:9557891

  • This annotation was curated on 2019-10-15 08:57:36.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:2454224, PMID:28492532, PMID:3680255, PMID:6773953, PMID:8081389

  • This annotation was curated on 2019-10-15 09:01:22.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:25326637, PMID:28492532

  • This annotation was curated on 2019-10-15 08:59:41.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Col1a2 (Mus musculus) [(IEA) inferred from electronic annotation]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2

  • This annotation was curated on 2019-10-17 22:11:37.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:16705691, PMID:17078022, PMID:19344236, PMID:22589248, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:27519266, PMID:28492532, PMID:7695699, PMID:8094076, PMID:8218237, PMID:9016532

  • This annotation was curated on 2019-10-15 08:59:05.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:16879195, PMID:17078022, PMID:19344236, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532

  • This annotation was curated on 2019-10-15 08:57:16.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta
  • Original References(s): PMID:24767406, PMID:26467025, PMID:27146342, PMID:27509835, PMID:27519266, PMID:28396251, PMID:8829649

  • This annotation was curated on 2019-10-15 08:56:31.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:16786509, PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-10-15 09:01:58.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:21520333, PMID:25741868, PMID:25944380, PMID:28492532

  • This annotation was curated on 2019-10-15 09:01:32.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:17078022, PMID:19344236, PMID:25741868, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532

  • This annotation was curated on 2019-10-15 08:56:58.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:25741868, PMID:26604951, PMID:28492532

  • This annotation was curated on 2019-10-15 08:56:39.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:11288717, PMID:15077201, PMID:15241796, PMID:16816023, PMID:25944380, PMID:26177859, PMID:27510842, PMID:28492532, PMID:29595812, PMID:2993307, PMID:3372533, PMID:6092353

  • This annotation was curated on 2019-10-15 08:59:06.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Lobstein's Disease
  • Original References(s): PMID:11288717, PMID:15077201, PMID:16816023, PMID:27510842, PMID:28492532, PMID:2993307, PMID:3372533, PMID:6092353

  • This annotation was curated on 2019-10-15 08:59:21.0 by RGD . For more information contact us

    An association has been curated linking Col1a2 and osteogenesis imperfecta in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 35 RGD objects have been annotated to osteogenesis imperfecta  (DOID:12347)
  • 32 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-10-15 08:58:22.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.