Imported Annotations - OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond-Blackfan Anemia 19 | IAGP | 7240710 | OMIM |




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Imported Annotations - OMIM | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond-Blackfan Anemia 19 | IAGP | 7240710 | OMIM |
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1. | Anger AM, etal., Nature. 2013 May 2;497(7447):80-5. doi: 10.1038/nature12104. |
2. | GOA_HUMAN data from the GO Consortium |
3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 2891103 7821789 8076819 8722009 11401437 12477932 12962325 14567916 15164053 15189156 15489334 15635413 16341674 17353931 17361185 17620599 18029348 18523488 19167051 19738201 19946888 20020773 20195357 20301769 20562859 21081503 21145461 21319273 21873635 21900206 21907836 21988832 22119785 22623428 22658674 22863883 22939629 22944692 23398456 23443559 23455922 23463506 24140708 24390425 24711643 24755837 25315684 25662211 26269332 26344197 26362536 26496610 26527279 26831064 26990986 27025967 27545878 27591049 27684187 27976729 28031328 28514442 28515276 28680062 28977666 29117863 29128334 29180619 29229926 29449217 29467282 29507755 29509190 29511261 29845934 30033366 30209976 30258100 30344098 30425250 30463901 30575818 |
RPL35 (Homo sapiens - human) |
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Rpl35 (Mus musculus - house mouse) |
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Rpl35 (Rattus norvegicus - Norway rat) |
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Rpl35 (Chinchilla lanigera - long-tailed chinchilla) |
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RPL35 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RPL35 (Canis lupus familiaris - dog) |
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Rpl35 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RPL35 (Sus scrofa - pig) |
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RH122628 |
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RH123045 |
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RH66784 |
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stSG609458 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NM_007209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB046409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK291072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL354928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC000348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC010919 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC071915 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC094828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM854016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR456877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR996819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D17026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D17195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D28448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FB342981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FB711104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U12465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_007209 ⟹ NP_009140 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
CTTCCTCTTTCCCTCGGAGCGGGCGGCGGCGTTGGCGGCTTGTGCAGCAATGGCCAAGATCAAGhide sequence |
Protein RefSeqs | NP_009140 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA51648 | (Get FASTA) | NCBI Sequence Viewer |
AAH00348 | (Get FASTA) | NCBI Sequence Viewer | |
AAH10919 | (Get FASTA) | NCBI Sequence Viewer | |
AAH71915 | (Get FASTA) | NCBI Sequence Viewer | |
AAH94828 | (Get FASTA) | NCBI Sequence Viewer | |
BAA05814 | (Get FASTA) | NCBI Sequence Viewer | |
BAB21255 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83761 | (Get FASTA) | NCBI Sequence Viewer | |
CAG33158 | (Get FASTA) | NCBI Sequence Viewer | |
CAR81491 | (Get FASTA) | NCBI Sequence Viewer | |
CAS91507 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87600 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87601 | (Get FASTA) | NCBI Sequence Viewer | |
EAW87602 | (Get FASTA) | NCBI Sequence Viewer | |
P42766 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_009140 ⟸ NM_007209 |
- UniProtKB: | P42766 (UniProtKB/Swiss-Prot) |
- Sequence: |
MAKIKARDLRGKKKEELLKQLDDLKVELSQLRVAKVTGGAASKLSKIRVVRKSIARVLTVINQThide sequence |
RGD ID: | 7216123 | |||||||||
Promoter ID: | EPDNEW_H13808 | |||||||||
Type: | initiation region | |||||||||
Name: | RPL35_1 | |||||||||
Description: | ribosomal protein L35 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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RGD ID: | 6807251 | |||||||||
Promoter ID: | HG_KWN:64907 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | ENST00000353214, ENST00000373570, NM_007209, OTTHUMT00000054036, OTTHUMT00000054037, OTTHUMT00000054038, OTTHUMT00000054039 | |||||||||
Position: |
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RGD ID: | 6852148 | |||||||||
Promoter ID: | EP73880 | |||||||||
Type: | multiple initiation site | |||||||||
Name: | HS_RPL35 | |||||||||
Description: | Ribosomal protein L35. | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | NEDO full length human cDNA sequencing project.; Oligo-capping | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051009]|See cases [RCV000051009] | Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051040]|See cases [RCV000051040] | Chr9:122792658..138124532 [GRCh38] Chr9:125554937..141018984 [GRCh37] Chr9:124594758..140138805 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] | Chr9:121586837..138179445 [GRCh38] Chr9:124349116..141073897 [GRCh37] Chr9:123388937..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
NM_001045476.2(WDR38):c.317G>A (p.Arg106Gln) | single nucleotide variant | Malignant melanoma [RCV000068540] | Chr9:124855870 [GRCh38] Chr9:127618149 [GRCh37] Chr9:126657970 [NCBI36] Chr9:9q33.3 |
not provided |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 | copy number gain | See cases [RCV000134920] | Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1 | copy number loss | See cases [RCV000141589] | Chr9:123095598..126693843 [GRCh38] Chr9:125857877..129456122 [GRCh37] Chr9:124897698..128495943 [NCBI36] Chr9:9q33.2-33.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
NM_007209.4(RPL35):c.231G>C (p.Lys77Asn) | single nucleotide variant | DIAMOND-BLACKFAN ANEMIA 19 [RCV000754834]|Diamond-Blackfan anemia 19 [RCV000754834] | Chr9:124858059 [GRCh38] Chr9:127620338 [GRCh37] Chr9:9q33.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 | copy number gain | See cases [RCV000448784] | Chr9:124642754..141146461 [GRCh37] Chr9:9q33.2-34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) | copy number gain | Global developmental delay [RCV000626548]|Seizures [RCV000626548] | Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 | copy number gain | not provided [RCV000847808] | Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:10344 | AgrOrtholog |
COSMIC | RPL35 | COSMIC |
Ensembl Genes | ENSG00000136942 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000259469 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000362671 | UniProtKB/TrEMBL | |
ENSP00000437215 | UniProtKB/TrEMBL | |
ENSP00000486088 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000348462 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000373570 | UniProtKB/TrEMBL | |
ENST00000493018 | UniProtKB/TrEMBL | |
ENST00000629845 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.310 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000136942 | GTEx |
HGNC ID | HGNC:10344 | ENTREZGENE |
Human Proteome Map | RPL35 | Human Proteome Map |
InterPro | Ribosomal_L29/L35 | UniProtKB/Swiss-Prot |
Ribosomal_L29/L35_sf | UniProtKB/Swiss-Prot | |
Ribosomal_L29_CS | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:11224 | UniProtKB/Swiss-Prot |
NCBI Gene | 11224 | ENTREZGENE |
OMIM | 618312 | OMIM |
618315 | OMIM | |
Pfam | Ribosomal_L29 | UniProtKB/Swiss-Prot |
PharmGKB | PA34727 | PharmGKB |
PROSITE | RIBOSOMAL_L29 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF46561 | UniProtKB/Swiss-Prot |
TIGRFAMs | L29 | UniProtKB/Swiss-Prot |
UniGene | Hs.182825 | ENTREZGENE |
UniProt | A0A024R866_HUMAN | UniProtKB/TrEMBL |
F2Z388_HUMAN | UniProtKB/TrEMBL | |
P42766 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A8K4V7 | UniProtKB/Swiss-Prot |
H0Y3A0 | UniProtKB/TrEMBL | |
Q4VBY5 | UniProtKB/Swiss-Prot | |
Q5JTN5 | UniProtKB/Swiss-Prot | |
Q6IBC7 | UniProtKB/Swiss-Prot | |
Q96QJ7 | UniProtKB/Swiss-Prot | |
Q9BYF4 | UniProtKB/Swiss-Prot |
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More on RPL35 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
RGD Object Information | |
RGD ID: | 1353068 |
Created: | 2005-03-08 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.