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GENE - TERM ANNOTATION REPORT

RGD ID: 1309129
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ndufb8
Name: NADH:ubiquinone oxidoreductase subunit B8
Acc ID: DOID:0112080
Term: nuclear type mitochondrial complex I deficiency 32
Definition: A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. (DO)
Definition Source(s): PMID:29429571 "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)
Ndufb8 ISONDUFB8 (Homo sapiens)7240710OMIM  
Ndufb8 ISONDUFB8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 | ClinVar Annotator: match by term: NDUFB8-related conditionPMID:25741868 PMID:28492532 PMID:29429571
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