Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N1270I
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ATP7B

NM_000053.4:p.N1270I

Associated Papers

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

Prevalence of Wilson disease based on genome databases in Japan.

Yamaguchi H et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2021

Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.

Németh D et al.

Gastroenterology Research and Practice, 2016

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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."