Rare Variants in PFIC-Related Genes Among Adults With Intrahepatic Cholestasis - PubMed
4 hours ago
- #PFIC genes
- #drug-induced liver injury
- #whole-exome sequencing
- Investigated heterozygous variants in PFIC-related genes in Japanese adults with intrahepatic cholestasis.
- Found rare variants in 21% of patients (4 out of 19), all diagnosed with drug-induced liver injury.
- Identified a known pathogenic ABCB11 splice-site variant and three variants of uncertain significance.
- Highlighted the unclear clinical significance of these heterozygous variants in adult cholestasis.