Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.F792fs
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ATP2C1

NM_001378687.1:p.F792fs

Associated Papers

Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders.

Vodo D et al.

The British Journal of Dermatology, 2018

The role of the ATP2C1 gene in Hailey-Hailey disease.

Deng H et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.

Nellen RG et al.

Human Mutation, 2017

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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."