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Analyze GeneStrainQTL List |
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![]() Cellular Component Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | integral component of membrane | | IEA | UniProtKB-KW:KW-0812 | 2290271 | | UniProtKB | GO_REF:0000037 | |
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1. | RGD automated import pipeline for gene-chemical interactions |
2. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PubMed | 14702039 15164053 15489334 21988832 25352737 26186194 26496610 27432908 27503909 28514442 29374258 |
PGAP4 (Homo sapiens - human) |
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Tmem246 (Mus musculus - house mouse) |
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Pgap4 (Rattus norvegicus - Norway rat) |
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Pgap4 (Chinchilla lanigera - long-tailed chinchilla) |
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PGAP4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TMEM246 (Canis lupus familiaris - dog) |
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Pgap4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PGAP4 (Sus scrofa - pig) |
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SHGC-83842 |
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RH18341 |
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SHGC-155775 |
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G29148 |
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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_001303107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001303108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001371233 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_032342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024447701 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AJ420439 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK094413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK313981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL353621 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL521069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC006115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC033550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC113967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BF437324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY033877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY174800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001303107 ⟹ NP_001290036 | ||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
GGCGCCTTTTGCCGTCCTTTTTCCCCAAGCCGCTTTGGGGGCCGCGGTCTCTCCGCAGCTCGCGhide sequence |
RefSeq Acc Id: | NM_001303108 ⟹ NP_001290037 | ||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||
Type: | CODING | ||||||||||||||
Position: |
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Sequence: |
GGGTTGCCTAGCGGCCCTGCCCGCAGCTCCGACCGCTTCCTGCCGGAGGATTGCGAGGACCCCGhide sequence |
RefSeq Acc Id: | NM_001371233 ⟹ NP_001358162 | |||||||||
RefSeq Status: | VALIDATED | |||||||||
Type: | CODING | |||||||||
Position: |
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RefSeq Acc Id: | NM_032342 ⟹ NP_115718 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
GGCGCCTTTTGCCGTCCTTTTTCCCCAAGCCGCTTTGGGGGCCGCGGTCTCTCCGCAGCTCGCGhide sequence |
RefSeq Acc Id: | XM_024447701 ⟹ XP_024303469 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
TAGCATGTTGATTAAGAGAATGGACTCTGAAGCCGGATTTCATCAGTTTGGATTTTGGCTTTTChide sequence |
Protein RefSeqs | NP_001290036 | (Get FASTA) | NCBI Sequence Viewer |
NP_001290037 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001358162 | (Get FASTA) | NCBI Sequence Viewer | |
NP_115718 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024303469 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH06115 | (Get FASTA) | NCBI Sequence Viewer |
AAH33550 | (Get FASTA) | NCBI Sequence Viewer | |
AAI13968 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58953 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58954 | (Get FASTA) | NCBI Sequence Viewer | |
Q9BRR3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_115718 ⟸ NM_032342 |
- UniProtKB: | Q9BRR3 (UniProtKB/Swiss-Prot), A0A024R188 (UniProtKB/TrEMBL) |
- Sequence: |
MSTSTSPAAMLLRRLRRLSWGSTAVQLFILTVVTFGLLAPLACHRLLHSYFYLRHWHLNQMSQEhide sequence |
RefSeq Acc Id: | NP_001290036 ⟸ NM_001303107 |
- UniProtKB: | Q9BRR3 (UniProtKB/Swiss-Prot), A0A024R188 (UniProtKB/TrEMBL) |
- Sequence: |
MSTSTSPAAMLLRRLRRLSWGSTAVQLFILTVVTFGLLAPLACHRLLHSYFYLRHWHLNQMSQEhide sequence |
RefSeq Acc Id: | NP_001290037 ⟸ NM_001303108 |
- UniProtKB: | Q9BRR3 (UniProtKB/Swiss-Prot), A0A024R188 (UniProtKB/TrEMBL) |
- Sequence: |
MSTSTSPAAMLLRRLRRLSWGSTAVQLFILTVVTFGLLAPLACHRLLHSYFYLRHWHLNQMSQEhide sequence |
RefSeq Acc Id: | XP_024303469 ⟸ XM_024447701 |
- Peptide Label: | isoform X1 |
- Sequence: |
MSTSTSPAAMLLRRLRRLSWGSTAVQLFILTVVTFGLLAPLACHRLLHSYFYLRHWHLNQMSQEhide sequence |
RefSeq Acc Id: | NP_001358162 ⟸ NM_001371233 |
RGD ID: | 7215713 | |||||||||
Promoter ID: | EPDNEW_H13603 | |||||||||
Type: | initiation region | |||||||||
Name: | TMEM246_1 | |||||||||
Description: | transmembrane protein 246 | |||||||||
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: | 6807303 | |||||||||
Promoter ID: | HG_KWN:64353 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | HeLa_S3, K562 | |||||||||
Transcripts: | ENST00000374847, OTTHUMT00000053442 | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 | copy number loss | Abnormal facial shape [RCV000050315]|See cases [RCV000050315] | Chr9:99138048..115011033 [GRCh38] Chr9:101900330..117773312 [GRCh37] Chr9:100940151..116813133 [NCBI36] Chr9:9q22.33-33.1 |
pathogenic |
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 9q22.33-33.1(chr9:99349916-115767475)x1 | copy number loss | Chiari malformation type II [RCV000052921]|See cases [RCV000052921] | Chr9:99349916..115767475 [GRCh38] Chr9:102112198..118529754 [GRCh37] Chr9:101152019..117569575 [NCBI36] Chr9:9q22.33-33.1 |
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 9q22.32-31.2(chr9:94184266-106730550)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053774]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053774]|See cases [RCV000053774] | Chr9:94184266..106730550 [GRCh38] Chr9:96946548..109492831 [GRCh37] Chr9:95986369..108532652 [NCBI36] Chr9:9q22.32-31.2 |
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 9q22.1-32(chr9:88522292-113687796)x3 | copy number gain | Global developmental delay [RCV000053752]|See cases [RCV000053752] | Chr9:88522292..113687796 [GRCh38] Chr9:91137207..116450076 [GRCh37] Chr9:90327027..115489897 [NCBI36] Chr9:9q22.1-32 |
pathogenic |
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 9q22.32-31.3(chr9:95061030-108695569)x1 | copy number loss | See cases [RCV000134375] | Chr9:95061030..108695569 [GRCh38] Chr9:97823312..111457849 [GRCh37] Chr9:96863133..110497670 [NCBI36] Chr9:9q22.32-31.3 |
pathogenic |
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 | copy number gain | See cases [RCV000136788] | Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2 |
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 9q22.33-31.3(chr9:99024205-109947890)x1 | copy number loss | See cases [RCV000138281] | Chr9:99024205..109947890 [GRCh38] Chr9:101786487..112710170 [GRCh37] Chr9:100826308..111749991 [NCBI36] Chr9:9q22.33-31.3 |
pathogenic|likely 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 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 9q21.12-31.3(chr9:69627642-111454304)x3 | copy number gain | See cases [RCV000139789] | Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3 |
pathogenic |
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 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 9q22.33-33.1(chr9:99138048-115011033)x1 | copy number loss | See cases [RCV000148264] | Chr9:99138048..115011033 [GRCh38] Chr9:101900330..117773312 [GRCh37] Chr9:100940151..116813133 [NCBI36] Chr9:9q22.33-33.1 |
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 |
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 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NC_000009.11:g.(?_102339410)_(109549354_?)del | deletion | Schizophrenia [RCV000416788] | Chr9:102339410..109549354 [GRCh37] Chr9:101379231..108589175 [NCBI36] Chr9:9q22.33-31.2 |
likely pathogenic |
GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1 | copy number loss | See cases [RCV000447957] | Chr9:103271401..113948226 [GRCh37] Chr9:9q31.1-31.3 |
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(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)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(chr9:203861-141020388)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:28180 | AgrOrtholog |
COSMIC | PGAP4 | COSMIC |
Ensembl Genes | ENSG00000165152 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000363980 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000363981 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000363984 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000374847 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000374848 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000374851 | ENTREZGENE, UniProtKB/Swiss-Prot | |
GTEx | ENSG00000165152 | GTEx |
HGNC ID | HGNC:28180 | ENTREZGENE |
Human Proteome Map | PGAP4 | Human Proteome Map |
InterPro | TMEM246 | UniProtKB/Swiss-Prot |
KEGG Report | hsa:84302 | UniProtKB/Swiss-Prot |
NCBI Gene | 84302 | ENTREZGENE |
PANTHER | PTHR31410 | UniProtKB/Swiss-Prot |
PharmGKB | PA134867545 | PharmGKB |
UniGene | Hs.388742 | ENTREZGENE |
Hs.655738 | ENTREZGENE | |
UniProt | A0A024R188 | ENTREZGENE, UniProtKB/TrEMBL |
Q9BRR3 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | Q49AQ4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-09-03 | PGAP4 | post-GPI attachment to proteins GalNAc transferase 4 | TMEM246 | transmembrane protein 246 | Symbol and/or name change | 5135510 | APPROVED |
2012-04-24 | TMEM246 | transmembrane protein 246 | C9orf125 | chromosome 9 open reading frame 125 | Symbol and/or name change | 5135510 | APPROVED |
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More on PGAP4 | |
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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 |
CRRD Object Information | |
CRRD ID: | 1316281 |
Created: | 2005-01-12 |
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.