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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Cstb and benign epilepsy with centrotemporal spikes 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 CSTB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 50 RGD objects have been annotated to benign epilepsy with centrotemporal spikes  (DOID:3329)
  • 15 papers in RGD have been used to annotate Cstb
  • Curation Notes: ClinVar Annotator: match by term: Rolandic epilepsy
  • Original References(s): PMID:15329070 PMID:15483648 PMID:16155205 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:8596935 PMID:9054946 PMID:9342192


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