Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.S495*
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ATP2A2

NM_170665.4:p.S495*

Associated Papers

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

Novel mutations in Darier disease and association to self-reported disease severity.

Leong IUS et al.

Plos One, 2017

Exon 12 of the ATP2A2 gene in patients with Darier disease: one novel mutation and one previously described.

Shi BJ et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015

Novel ATP2A2 mutations in a large sample of individuals with Darier disease.

Green EK et al.

The Journal of Dermatology, 2013

Mutations in ATP2A2 in patients with Darier's disease.

Ikeda S et al.

The Journal of Investigative Dermatology, 2003

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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."