Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B2
Variant:p.P554L
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ATP2B2

NM_001001331.4:p.P554L

Associated Papers

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.

Sudbrak R et al.

Human Molecular Genetics, 2000

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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."