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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scml1 and developmental and epileptic encephalopathy 2 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 SCML1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 19 RGD objects have been annotated to developmental and epileptic encephalopathy 2  (DOID:0080467)
  • 1 papers in RGD have been used to annotate Scml1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2
  • Original References(s): PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 PMID:18076117 PMID:19414485 PMID:19780792 PMID:19888300 PMID:20591708 PMID:20882036 PMID:21770923 PMID:21914562 PMID:22473288 PMID:22872100 PMID:23184456 PMID:25315662 PMID:28492532 PMID:30945684 PMID:31916079 PMID:9837815


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