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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Chat and congenital myasthenic syndrome 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 CHAT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 189 RGD objects have been annotated to congenital myasthenic syndrome  (DOID:3635)
  • 31 papers in RGD have been used to annotate Chat
  • Curation Notes: ClinVar Annotator: match by term: Congenital myasthenic syndrome
  • Original References(s): PMID:11172068 PMID:12548525 PMID:19520274 PMID:21786365 PMID:22678886 PMID:23292760 PMID:24033266 PMID:25741868 PMID:25741895 PMID:26080897 PMID:28492532 PMID:28497657 PMID:28991257 PMID:29189923 PMID:32368696 PMID:33820833


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