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VARIANT - TERM ANNOTATION REPORT

RGD ID: 405247885
Species: Homo sapiens
RGD Object: Variant
Symbol: CV3159164
Name: NM_000631.5(NCF4):c.32+13G>T
Acc ID: DOID:0070194
Term: autosomal recessive chronic granulomatous disease 3
Definition: A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19692703 "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)
CV3159164 IAGP 8554872ClinVarClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3PMID:28492532
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