Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.A823E
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ATP2C1

NM_001378687.1:p.A823E

Associated Papers

Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population.

Wang Z et al.

The Journal of Dermatology, 2019

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

Deng H et al.

Cellular and Molecular Life Sciences : Cmls, 2017

ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.

Micaroni M et al.

Cell Death & Disease, 2016

Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population.

Meng L et al.

Genetics and Molecular Research : Gmr, 2015

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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."