Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.Q312L
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UBA5

NM_024818.6:p.Q312L

Associated Papers

UBA5 missense variants disrupt UFM1 activation: Structural, dynamic, and functional dissection.

Ai L et al.

International Journal of Biological Macromolecules, 2026

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.

Pan X et al.

Elife, 2023

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.

Pan X et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."