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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2A2

Variant:p.P147delFs

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ATP2A2

NM_170665.4:p.P147delFs

hg38:chr12:110296712 TC>T

Associated Papers

Mutations in ATP2A2 in patients with Darier's disease.

Ikeda S et al.

The Journal of Investigative Dermatology, 2003

12925202 (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."