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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2C1

Variant:p.T785_L786del2

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ATP2C1

NM_001199182.2:p.T785_L786del2

hg38:chr3:130997728 GGACTTT>G

Associated Papers

A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?

van Beek N et al.

Plos One, 2015

25837627 (PubMed )

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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."