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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10409496
Species: Homo sapiens
RGD Object: Variant
Symbol: CV212004
Name: NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
Acc ID: DOID:9000982
Term: Pyruvate Dehydrogenase E1 Alpha Deficiency
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)
CV212004 IAGP 8554872ClinVarClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiencyPMID:10679936 PMID:1301207 PMID:15384102 PMID:15473177 PMID:20002125 PMID:25590979 PMID:25741868 PMID:28492532 PMID:7887409
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