Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.Q574*
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ATP2C1

NM_001378687.1:p.Q574*

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

Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population.

Xu K et al.

Medical Science Monitor Basic Research, 2017

Four novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease.

Li H et al.

The Journal of Dermatology, 2016

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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."