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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Bscl2 and Charcot-Marie-Tooth disease 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 BSCL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 660 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 13 papers in RGD have been used to annotate Bscl2
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:17387721 PMID:17486577 PMID:20806400 PMID:21957196 PMID:23142943 PMID:23989774 PMID:24451228 PMID:24604904 PMID:25487175 PMID:26815532 PMID:27549087 PMID:28492532


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