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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn1a and West syndrome 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 37 RGD objects have been annotated to West syndrome  (DOID:0050562)
  • 10 papers in RGD have been used to annotate Scn1a
  • Curation Notes: ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome
  • Original References(s): PMID:14504318 PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 PMID:28492532


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