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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Atm and beta-ketothiolase deficiency 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 ATM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to beta-ketothiolase deficiency  (DOID:14723)
  • 75 papers in RGD have been used to annotate Atm
  • Curation Notes: ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase
  • Original References(s): PMID:28492532


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