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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV538948 and autosomal recessive limb-girdle muscular dystrophy type 2O in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • 2 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2O  (DOID:0110292)
  • 0 papers in RGD have been used to annotate CV538948
  • Curation Notes: ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • Original References(s): PMID:25741868


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