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Article

Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.

Liver international : official journal of the International Association for the Study of the Liver - 1 May 2020

Zhang Jing, Yang Ye, Gong Jing-Yu, Li Li-Ting, Li Jia-Qi, Zhang Mei-Hong, Lu Yi, Xie Xin-Bao, Hong Yu-Ren, Yu Zhang, Knisely A S, Wang Jian-She

Abstract excerpt

BACKGROUND & AIMS: In about 20% of children with cholestasis and normal or low serum gamma-glutamyltransferase (GGT) activity, no aetiology is identified. We sought new genes implicated in paediatric hepatobiliary disease. METHODS: We conducted whole-exome sequencing in 69 children evaluated at our centre from 2011 to 2018 who had low-GGT cholestasis and in whom homozygous/compound heterozygous predictedly...

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PMID: 32124521
DOI: 10.1111/liv.14422

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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