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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8605141
Species: Homo sapiens
RGD Object: Variant
Symbol: CV51465
Name: NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
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.
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