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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.S1272Y

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ATP7B

NM_000053.4:p.S1272Y

hg38:chr13:51937564 G>T

Associated Papers

A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.

Kahraman CY et al.

Medicina (kaunas, Lithuania), 2021

33573009 (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."