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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV253075 and Epidermolysis Bullosa Simplex 5D with Nail Dystrophy 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
  • 12 RGD objects have been annotated to Epidermolysis Bullosa Simplex 5D with Nail Dystrophy  (DOID:9001254)
  • 0 papers in RGD have been used to annotate CV253075
  • Curation Notes: ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy
  • Original References(s): PMID:25741868


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