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VARIANT - TERM ANNOTATION REPORT

RGD ID: 126744923
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1017217
Name: NM_001330701.2(AGTPBP1):c.2843G>A (p.Arg948Gln)
Acc ID: DOID:9000084
Term: Childhood-Onset Neurodegeneration with Cerebellar Atrophy
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)
CV1017217 IAGP 8554872ClinVarClinVar Annotator: match by term: Neurodegeneration childhood-onset with cerebellar atrophy

PMID:25741868
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