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VARIANT - TERM ANNOTATION REPORT

RGD ID: 15157287
Species: Homo sapiens
RGD Object: Variant
Symbol: CV749342
Name: NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=)
Acc ID: DOID:9000858
Term: Idiopathic Basal Ganglia Calcification 4
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)
CV749342 IAGP 8554872ClinVarClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4PMID:28492532
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