Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.T181R
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ATP2A2

NM_170665.4:p.T181R

Associated Papers

Expanding the spectrum of Darier disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.

Stefani C et al.

Gene, 2026

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

Guo X et al.

Genes & Genomics, 2025

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

Leong IUS et al.

Plos One, 2017

Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change.

Racz E et al.

Journal of Dermatological Science, 2005

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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."