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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Cbl and congenital myasthenic syndrome 13 in Ictidomys tridecemlineatus.        

  • 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 CBL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to congenital myasthenic syndrome 13  (DOID:0110676)
  • 0 papers in RGD have been used to annotate Cbl
  • Curation Notes: ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates
  • Original References(s): PMID:22742743 PMID:28492532


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