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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn8a and West syndrome in Rattus norvegicus.        

  • 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 SCN8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 37 RGD objects have been annotated to West syndrome  (DOID:0050562)
  • 19 papers in RGD have been used to annotate Scn8a
  • Curation Notes: ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: West syndrome
  • Original References(s): PMID:12374766 PMID:17881658 PMID:22365152 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25785782 PMID:26235739 PMID:27779742 PMID:28492532 PMID:28923014 PMID:29186148 PMID:29720203 PMID:30171078 PMID:31715021


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