Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.Q520_K521Splc
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ABCB4

NM_000443.4:p.Q520_K521Splc

Associated Papers

Magnetic resonance imaging features of progressive familial intrahepatic cholestasis type 3.

Xu N et al.

Radiologie (heidelberg, Germany), 2024

A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2024

Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China.

Cheng J et al.

Frontiers in Medicine, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."