Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.K1258*
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ATP7B

NM_000053.4:p.K1258*

Associated Papers

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

Deguti MM et al.

Human Mutation, 2004

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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."