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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11585898
Species: Homo sapiens
RGD Object: Variant
Symbol: CV301389
Name: NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)
Acc ID: DOID:9007352
Term: Congenital Muscular Dystrophy due to Partial LAMA2 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)
CV301389 IAGP 8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiencyPMID:25741868 PMID:26467025 PMID:28492532
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