Varaico: Literature-Extracted Genetic Variants

Gene:ATP2C1
Variant:p.V169D
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ATP2C1

NM_001378687.1:p.V169D

Associated Papers

Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.

Yang L et al.

Molecular Genetics & Genomic Medicine, 2021

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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."