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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Cep57 and ataxia telangiectasia in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CEP57 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 104 RGD objects have been annotated to ataxia telangiectasia  (DOID:12704)
  • 7 papers in RGD have been used to annotate Cep57
  • Curation Notes: ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
  • Original References(s): PMID:23807571 PMID:25614872 PMID:28492532


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