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Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants.

Clinical genetics - 1 Jul 2025

Peng Ziyue, Wang Xin, Li Ying, Ren Yaqiong, Meng Yuhuan, Sun Liwei, Zhang Zitong, Song Yue, Xia Yang, Shi Lei, Yu Shihui, Cheng Liang, Zhang Xue

Abstract excerpt

The pathogenicity of cholestatic liver diseases (CLDs) remains insufficiently characterized, hindering definitive diagnosis and timely treatment. The aim of this study was to improve the pathogenicity prediction of novel bile acid (BA) transporter variants in patients with CLDs. We analyzed the clinical characteristics and genetic profiles of a CLD cohort (n = 57) using multiple in silico tools and in vitro...

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Bile Acids and Salts
Child
Cholestasis
Computational Biology
Computer Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Multidrug Resistance-Associated Protein 2

Mutation, Missense

Source

Identifiers

PMID: 39806568
DOI: 10.1111/cge.14704

Genes

ABCC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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