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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Bco1 and developmental and epileptic encephalopathy 1 in Ictidomys tridecemlineatus.        

  • 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 BCO1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 111 RGD objects have been annotated to developmental and epileptic encephalopathy 1  (DOID:0080468)
  • 0 papers in RGD have been used to annotate Bco1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
  • Original References(s): PMID:28492532 PMID:31780880


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