Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K832Q
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ATP7B

NM_000053.4:p.K832Q

Associated Papers

[Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease].

Xia JK et al.

Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2024

Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane.

Xu H et al.

Frontiers in Neurology, 2023

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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."