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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8557842
Species: Homo sapiens
RGD Object: Variant
Symbol: CV19038
Name: NM_017739.3(POMGNT1):c.652+1G>A
Acc ID: DOID:9008630
Term: Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3
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)
CV19038 IAGP 8554872ClinVarClinVar Annotator: match by term: MUSCULAR DYSTROPHY CONGENITAL POMGNT1-RELATED

PMID:17878207 PMID:18195152
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