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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8568123
Species: Homo sapiens
RGD Object: Variant
Symbol: CV39070
Name: NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)
Acc ID: DOID:9007617
Term: Conotruncal Cardiac Defects
Definition: null
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV39070 IAGP 8554872ClinVarClinVar Annotator: match by term: Conotruncal cardiac defectsPMID:21110066 PMID:25741868 PMID:25742962 PMID:27152669 PMID:28492532 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32425884
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