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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13473272
Species: Homo sapiens
RGD Object: Variant
Symbol: CV465146
Name: NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
Acc ID: DOID:9001464
Term: Weill-Marchesani Syndrome 2
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)
CV465146 IAGP 8554872ClinVarClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal DominantPMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19349279 PMID:25741868 PMID:28492532
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