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Article

MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.

Liver international : official journal of the International Association for the Study of the Liver - 1 Feb 2022

Wang Li, Qiu Yi-Ling, Xu Hong-Mei, Zhu Jing, Li Shuang-Jie, OuYang Wen-Xian, Yang Yong-Feng, Lu Yi, Xie Xin-Bao, Xing Qing-He, Wang Jian-She

Abstract excerpt

BACKGROUND & AIMS: Biallelic pathogenic variants in MYO5B cause microvillus inclusion disease (MVID), or familial intrahepatic cholestasis (FIC). The reported FIC patients are scarce and so the genotype-phenotype correlation has not been fully characterised. This study aimed to report more MYO5B-associated FIC patients and correlate genotypes to phenotypes in more detail. METHODS: The phenotype and genetic data...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34811877
DOI: 10.1111/liv.15104

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