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

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 clin...

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Veröffentlicht in:	Clinical genetics 2025-01
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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