Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.A571fs
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ATP8B1

NM_001374385.1:p.A571fs

Associated Papers

[Clinical and genetic analysis of a Chinese pedigree with autosomal recessive familial intrahepatic cholestasis type I due to a novel variant of ATP8B1 gene].

Wang Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

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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."