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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Msh6 and autosomal recessive progressive external ophthalmoplegia 1 in Chinchilla lanigera.        

  • 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 MSH6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to autosomal recessive progressive external ophthalmoplegia 1  (DOID:0111522)
  • 2 papers in RGD have been used to annotate Msh6
  • Curation Notes: ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1
  • Original References(s): PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532


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