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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV308744 and Epidermolysis Bullosa, Lethal Acantholytic 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 Epidermolysis Bullosa, Lethal Acantholytic  (DOID:9002630)
  • 0 papers in RGD have been used to annotate CV308744
  • Curation Notes: ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa
  • Original References(s): PMID:25741868 PMID:26585738 PMID:28492532 PMID:30615648


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