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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2A2

Variant:p.I232S

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ATP2A2

NM_170665.4:p.I232S

hg38:chr12:110327617 T>G

Associated Papers

A novel ATP2A2 mutation in a familial case of Darier disease accompanied with intellectual disability.

Wang F et al.

The Journal of Dermatology, 2025

38894563 (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."