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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV538948 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 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 Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3  (DOID:9008630)
  • 0 papers in RGD have been used to annotate CV538948
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED
  • Original References(s): PMID:25741868


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