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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2A2

Variant:p.T317_L319delFs

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ATP2A2

NM_170665.4:p.T317_L319delFs

hg38:chr12:110327870 CACCTGCCT>C

Associated Papers

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Moschella B et al.

Genes, 2025

40565511 (PubMed )

Supplement: genes-16-00619-s001.zip › genes-3647767-supplementary.xlsx › Foglio1

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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."