Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.E308_G309del1
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ATP2C1

NM_001378687.1:p.E308_G309del1

Associated Papers

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

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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