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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.Q649Splc

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ATP7B

NM_000053.4:p.Q649Splc

hg38:chr13:51961834 T>C

Associated Papers

Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.

Huong NTM et al.

Molecular Genetics and Metabolism Reports, 2022

35782615 (PubMed )

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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."