Varaico: Literature-Extracted Genetic Variants

Gene:VPS33B
Variant:p.Y67H
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VPS33B

NM_018668.5:p.Y67H

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."