Varaico: Literature-Extracted Genetic Variants

Gene:UXS1
Variant:p.R236H
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UXS1

NM_025076.5:p.R236H

Associated Papers

Structural instability impairs function of the UDP-xylose synthase 1 Ile181Asn variant associated with short-stature genetic syndrome in humans.

Li T et al.

Febs Letters, 2026

UDP xylose synthase 1 is required for morphogenesis and histogenesis of the craniofacial skeleton.

Eames BF et al.

Developmental Biology, 2010

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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."