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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SCN2A and developmental and epileptic encephalopathy 30 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10398160 (Homo sapiens)
  • 77 RGD objects have been annotated to developmental and epileptic encephalopathy 30  (DOID:0080465)
  • 7 papers in RGD have been used to annotate SCN2A
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30
  • Original References(s): PMID:23935176 PMID:25741868 PMID:26648591 PMID:26993267 PMID:27867041 PMID:28379373 PMID:28492532 PMID:32400968


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