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VARIANT - TERM ANNOTATION REPORT

RGD ID: 151720236
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1491486
Name: NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg)
Acc ID: DOID:9001287
Term: Ehlers-Danlos Syndrome Type 4
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)
CV1491486 IAGP 8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IVPMID:10706896 PMID:11359405 PMID:19344236 PMID:22019127 PMID:24922459 PMID:25758994 PMID:28492532 PMID:7695699 PMID:8218237
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