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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV1387270 and progressive familial intrahepatic cholestasis 2 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
  • 3 RGD objects have been annotated to progressive familial intrahepatic cholestasis 2  (DOID:0070222)
  • 0 papers in RGD have been used to annotate CV1387270
  • Curation Notes: ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2
  • Original References(s): PMID:18395098 PMID:19845854 PMID:20232290 PMID:25741868 PMID:28492532 PMID:28776642 PMID:32309332


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