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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12845131
Species: Homo sapiens
RGD Object: Variant
Symbol: CV367599
Name: NM_001291303.3(FAT4):c.14604A>G (p.Arg4868=)
Acc ID: DOID:9001947
Term: Hennekam Lymphangiectasia-Lymphedema 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)
CV367599 IAGP 8554872ClinVarClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2PMID:24033266 PMID:25741868 PMID:28492532
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