Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.E797D
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ATP2C1

NM_001378687.1:p.E797D

Associated Papers

Hailey-Hailey disease due to ATP2C1 splice site mutation, successfully treated with minocycline hydrochloride.

Kono M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2018

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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."