Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A2
Variant:p.G749V
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ATP2A2

NM_170665.4:p.G749V

Associated Papers

[Detection and analysis of an ATP2A2 mutation in a family with Darier-White disease].

Chen X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

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

Leong IUS et al.

Plos One, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Identification of two novel Darier disease‑associated mutations in the ATP2A2 gene.

Zheng L et al.

Molecular Medicine Reports, 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."