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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Slc3a1 and congenital myasthenic syndrome 22 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 SLC3A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to congenital myasthenic syndrome 22  (DOID:0080587)
  • 16 papers in RGD have been used to annotate Slc3a1
  • Curation Notes: ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22
  • Original References(s): PMID:10737983 PMID:17576681 PMID:19782624 PMID:22796000 PMID:24610330 PMID:25741868 PMID:28492532 PMID:32707643 PMID:9536098


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