Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.M822fs
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ATP7B

NM_000053.4:p.M822fs

Associated Papers

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.

Ovchinnikova EV et al.

International Journal of Molecular Sciences, 2024

The genetics of Wilson disease.

Chang IJ et al.

Handbook of Clinical Neurology, 2017

Geographic distribution of ATP7B mutations in Wilson disease.

Gomes A et al.

Annals of Human Biology, 2016

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.

Lee BH et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2011

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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."