Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.G233R
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ATP2A2

NM_170665.4:p.G233R

Associated Papers

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

Leong IUS et al.

Plos One, 2017

An ATP2A2 Missense Mutation in a Japanese Family with Darier Disease: A Case Report and Review of the Japanese Darier Disease Patients with ATP2A2 Mutations.

Li M et al.

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2017

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

Green EK et al.

The Journal of Dermatology, 2013

Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability.

Onozuka T et al.

The British Journal of Dermatology, 2004

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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."