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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Sacs and autosomal recessive limb-girdle muscular dystrophy in Mus musculus.        

  • 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 SACS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 114 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy  (DOID:0110274)
  • 6 papers in RGD have been used to annotate Sacs
  • Curation Notes: ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive
  • Original References(s): PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


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