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GENE - TERM ANNOTATION REPORT

RGD ID: 18932871
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Mipep
Name: mitochondrial intermediate peptidase
Acc ID: DOID:0110277
Term: autosomal recessive limb-girdle muscular dystrophy type 2C
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7481775 "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)
Mipep ISOMIPEP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2CPMID:18285821 PMID:19770540 PMID:22095924 PMID:28492532 PMID:9673983
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