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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2C1

Variant:p.E690insFs

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ATP2C1

NM_001378687.1:p.E690insFs

hg38:chr3:130996053 G>GA

Associated Papers

Novel ATP2C1 frame-shift mutation in a mild case of early onset sporadic Hailey-Hailey disease.

Nakai I et al.

The Journal of Dermatology, 2021

33161602 (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."