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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8569240
Species: Homo sapiens
RGD Object: Variant
Symbol: CV44377
Name: NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "DO" "DO"
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)
CV44377 IAGP 8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:10502777 PMID:15952988 PMID:16088907 PMID:17300695 PMID:17823867 PMID:18414213 PMID:25741868 PMID:28492532 PMID:7626145 PMID:8533760 PMID:8938442 PMID:9311736 PMID:9801873
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