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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.E965delFs

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ATP7B

NM_000053.4:p.E965delFs

hg38:chr13:51946448 CCT>C

Associated Papers

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Zhang S et al.

Translational Neurodegeneration, 2022

35220961 (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."