Varaico: Literature-Extracted Genetic Variants

Gene:ST14
Variant:p.R696S
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ST14

NM_021978.4:p.R696S

Associated Papers

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Wertheim-Tysarowska K et al.

Orphanet Journal of Rare Diseases, 2024

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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."