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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13467922
Species: Homo sapiens
RGD Object: Variant
Symbol: CV450285
Name: NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)
Acc ID: DOID:0111062
Term: familial hypobetalipoproteinemia 1
Definition: A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/3399894 "DO" "DO"
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)
CV450285 IAGP 8554872ClinVarClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1PMID:22923420 PMID:25741868 PMID:28492532 PMID:31153816 PMID:35913489
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