Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.T709Splc
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ATP2C1

NM_001378687.1:p.T709Splc

Associated Papers

Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism.

Asahina Y et al.

European Journal of Human Genetics : Ejhg, 2023

Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.

Yang L et al.

Molecular Genetics & Genomic Medicine, 2021

Mild Hailey-Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light.

Kono M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2018

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

Deng H et al.

Cellular and Molecular Life Sciences : Cmls, 2017

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

Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese.

Cheng TS et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2010

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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."