Varaico: Literature-Extracted Genetic Variants

Gene:UBE2R2
Variant:p.S238L
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UBE2R2

NM_017811.4:p.S238L

Associated Papers

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

Nauth T et al.

The Journal of Clinical Investigation, 2025

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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."