Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V1198A
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ATP7B

NM_000053.4:p.V1198A

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

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table

Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.

Lao TD et al.

Biomarker Insights, 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."