Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.L590P
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ATP2A2

NM_170665.4:p.L590P

Associated Papers

A novel ATP2A2 mutation in Darier and genotype phenotype: correlation analysis.

Guo X et al.

Genes & Genomics, 2025

Darier Disease - A Clinical Illustration of Its High Variable Expressivity.

Beiu C et al.

Cureus, 2019

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

Darier disease: discrete phenotype in a Sinhalese patient with Darier disease.

Nellen RG et al.

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

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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."