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GENE - TERM ANNOTATION REPORT

21 Annotations Found.

An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Goldmuntz E, etal., Circulation. 2001 Nov 20;104(21):2565-8.
  • 6 additional annotations were made from Goldmuntz E, etal., Circulation. 2001 Nov 20;104(21):2565-8.
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: DNA:missense mutations:cds:multiple (human)


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8560829 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Tetralogy of Fallot
  • Original References(s): PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8560830 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Tetralogy of Fallot
  • Original References(s): PMID:11714651 PMID:25741868 PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:151828237 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29368431


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8568123 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:21110066 PMID:25741868 PMID:25742962 PMID:27152669 PMID:28492532 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32425884


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9683164 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:12074273 PMID:18414213 PMID:22920929 PMID:25741868 PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12741223 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:24376681 PMID:25741868 PMID:26805889 PMID:27904570 PMID:28492532 PMID:28536625


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13464695 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:14607454 PMID:17544441 PMID:25741868 PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8560832 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Tetralogy of Fallot
  • Original References(s): PMID:11714651 PMID:15161646 PMID:15917268 PMID:25741868 PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13529881 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:19933292 PMID:25741868 PMID:27152669 PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13475161|RGD:151866719 (Homo sapiens) & RGD:13475161|RGD:151866719 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13535609 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:12798584 PMID:14607454 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • 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 Nkx2-5 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: OMIM:187500


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:401724216 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Tetralogy of Fallot


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11638003|RGD:26897890 (Homo sapiens) & RGD:11638003|RGD:26897890 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32369864


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13813788|RGD:26886495 (Homo sapiens) & RGD:13813788|RGD:26886495 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy
  • Original References(s): PMID:14607454 PMID:25741868 PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens) & RGD:10044673|RGD:10044925|RGD:126735383|RGD:126735649|RGD:126735772|RGD:126735800|RGD:126735901|RGD:12841058|RGD:12842710|RGD:13527753|RGD:13531474|RGD:13541982|RGD:13809246|RGD:14742792|RGD:150546084|RGD:151765558|RGD:151823939|RGD:156190002|RGD:26891986|RGD:26901542|RGD:26915328|RGD:38486623 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10766587|RGD:40815889|RGD:408394293 (Homo sapiens) & RGD:10766587|RGD:40815889|RGD:408394293 (Homo sapiens) & RGD:10766587|RGD:40815889|RGD:408394293 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Tetralogy of Fallot
  • Original References(s): PMID:25741868


    • An association has been curated linking NKX2-5 and tetralogy of Fallot in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8560831 (Homo sapiens)
  • 51 RGD objects have been annotated to tetralogy of Fallot  (DOID:6419)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Tetralogy of Fallot
  • Original References(s): PMID:11714651 PMID:21091212 PMID:25741868 PMID:28492532


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