Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.Q177P
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ATP2A2

NM_170665.4:p.Q177P

Associated Papers

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Moschella B et al.

Genes, 2025

40565511 (PubMed )
Supplement: genes-16-00619-s001.zip › genes-3647767-supplementary.xlsx › Foglio1

Failed Metabolic Adaptation to Stress Underlies Pathogenesis in a Heterozygous Genetic Disorder.

Harmon R et al.

Biorxiv : the Preprint Server for Biology, 2025

Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.

Atzmony L et al.

Jama Dermatology, 2024

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

Leong IUS et al.

Plos One, 2017

Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects.

Dodiuk-Gad RP et al.

The British Journal of Dermatology, 2016

Novel mutations in two families with Darier's disease.

Amichai B et al.

International Journal of Dermatology, 2007

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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."