Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.G1341Splc
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ATP7B

NM_000053.4:p.G1341Splc

Associated Papers

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.

Wallace DF et al.

Human Genetics, 2020

High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.

Collet C et al.

Bmc Medical Genetics, 2018

A genetic study of Wilson's disease in the United Kingdom.

Coffey AJ et al.

Brain : a Journal of Neurology, 2013

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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."