Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.Y122*
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ATP2A2

NM_170665.4:p.Y122*

Associated Papers

Severe Darier's Disease by Mitochondrial DNA Insertion Causing Nonsense Mutations: In Silico Prediction of a Pathophysiological Mechanism to a Novel Mutation.

Shintani H et al.

Experimental Dermatology, 2025

Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.

Ringpfeil F et al.

Experimental Dermatology, 2001

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

Sakuntabhai A et al.

Human Molecular Genetics, 1999

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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."