Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.R174delFs
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ATP2C1

NM_001378687.1:p.R174delFs

Associated Papers

The role of the ATP2C1 gene in Hailey-Hailey disease.

Deng H et al.

Cellular and Molecular Life Sciences : Cmls, 2017

ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.

Micaroni M et al.

Cell Death & Disease, 2016

27277681 (PubMed )
Supplement: cddis2016147x1.pdf

Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene.

Hamada T et al.

Journal of Dermatological Science, 2008

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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."