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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Stxbp1 and spastic ataxia 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 STXBP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 83 RGD objects have been annotated to spastic ataxia  (DOID:0050952)
  • 45 papers in RGD have been used to annotate Stxbp1
  • Curation Notes: ClinVar Annotator: match by term: Spastic ataxia
  • Original References(s): PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 PMID:26865513 PMID:26993267 PMID:28492532 PMID:29264391 PMID:32643187 PMID:34445196


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