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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2C1

Variant:p.T709Splc

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ATP2C1

NM_001378687.1:p.T709Splc

hg38:chr3:130996677 C>G

Associated Papers

A Novel Splice Site Variant in the ATP2C1 Gene Led to Two Distinct Aberrant Splicing Events and Caused Hailey-Hailey Disease.

Hashimoto S et al.

The Journal of Dermatology, 2025

40285444 (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."