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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Cacnb4 and juvenile myoclonic epilepsy in Chinchilla lanigera.        

  • 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 CACNB4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to juvenile myoclonic epilepsy  (DOID:4890)
  • 2 papers in RGD have been used to annotate Cacnb4
  • Curation Notes: ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
  • Original References(s): PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532


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