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Rare Variants in PFIC-Related Genes Among Adults With Intrahepatic Cholestasis
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DOI：10.1111/hepr.70229.png)
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Abstract
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Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)-related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear. We investigated the prevalence of heterozygous PFIC-related gene variants in Japanese adults with intrahepatic cholestasis.
Keywords:
bile acid transport
cholestasis
drug-induced liver injury
PFIC
whole-exome sequencing
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