Varaico: Literature-Extracted Genetic Variants

Gene:UBA1
Variant:p.N39_G40Splc
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UBA1

NM_003334.4:p.N39_G40Splc

Associated Papers

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome.

Wadsworth PA et al.

American Journal of Clinical Pathology, 2025

40418703 (PubMed )
Supplement: aqaf051_suppl_supplementary_material.pdf

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.

Poulter JA et al.

Blood, 2021

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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."