A recent study published in PubMed explores the genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1, identifying novel variants in the ATP8B1 gene. The research highlights important genotype-phenotype correlations that could inform future therapeutic strategies.
genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1 novel atp8b1 variants and genotype phenotype correlations
Original title: “Genetic and clinical spectrum of progressive familial intrahepatic cholestasis type 1: novel ATP8B1 variants and genotype-phenotype correlations.”