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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBA1

Variant:p.S620P

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UBA1

NM_003334.4:p.S620P

hg38:chrX:47206364 T>C

Associated Papers

Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations.

Sakuma M et al.

Leukemia, 2025

41068485 (PubMed )

Supplement: 41375_2025_2775_MOESM1_ESM.pdf

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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."