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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP7B

Variant:p.F206Y

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ATP7B

NM_000053.4:p.F206Y

hg38:chr13:51974603 A>T

Associated Papers

Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.

Lorente-Arencibia P et al.

Journal of Pediatric Gastroenterology and Nutrition, 2022

34620762 (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."