Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3

Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3

Abstract Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a severe hepatic disorder characterized by cholestasis. Elucidating the genotype-phenotype correlations and expanding the mutational spectrum of the ABCB4 gene are crucial for enhancing diagnostic accuracy and therapeutic strat...

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Bibliographic Details
Main Authors: Senyan Wang, Qi Liu, Xiaoyan Sun, Wenjuan Wei, Leilei Ding, Xiaofang Zhao
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Scientific Reports
Subjects:
PFIC3
ABCB4 gene
Liver transplantation; machine learning
Mutation spectrum
Online Access:https://doi.org/10.1038/s41598-024-79123-6
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