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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PC

Variant:p.A412S

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PC

NM_001040716.2:p.A412S

hg38:chr11:66863908 C>A

Associated Papers

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

Park S et al.

Human Mutation, 2007

17587212 (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."