Varaico: Literature-Extracted Genetic Variants

Gene:EPHB6
Variant:p.R778L
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EPHB6

NM_004445.6:p.R778L

Associated Papers

Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.

Own-Eium P et al.

Journal of Human Genetics, 2025

Identification of potential modifier genes in Chinese patients with Wilson disease.

Zhou D et al.

Metallomics : Integrated Biometal Science, 2022

Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.

Wan L et al.

Hepatology (baltimore, Md.), 2010

[Clinical manifestations and mutation study in 16 Chinese patients with Fabry disease].

Meng Y et al.

Zhonghua Yi Xue Za Zhi, 2010

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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."