Biallelic loss-of-function variants in NR1H4 (p.Arg176*, p.Tyr139_Asn140insLys and a 31.7 kb deletion spanning the first two coding exons) have been reported to associate with progressive familial intrahepatic cholestasis (PFIC) characterized by liver dysfunction, elevated aminotransferases, hyperbilirubinemia, and elevated prothrombin time27. This evidence concerns the gene F2 and familial intrahepatic cholestasis.