Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.S916Y
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ATP2A2

NM_170665.4:p.S916Y

Associated Papers

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

Leong IUS et al.

Plos One, 2017

Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease.

Song J et al.

Archives of Dermatological Research, 2010

Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease.

Miyauchi Y et al.

The Journal of Biological Chemistry, 2006

Mutations in ATP2A2 in patients with Darier's disease.

Ikeda S et al.

The Journal of Investigative Dermatology, 2003

Novel point mutations of the ATP2A2 gene in two Chinese families with Darier disease.

Yang Y et al.

The Journal of Investigative Dermatology, 2001

Epidermolysis bullosa carrier frequencies in the US population.

Pfendner E et al.

The Journal of Investigative Dermatology, 2001

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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."