Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.Q1142*
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ATP7B

NM_000053.4:p.Q1142*

Associated Papers

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

Loudianos G et al.

Journal of Medical Genetics, 1999

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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."