Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations
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DOI: 10.1038/s41375-025-02775-4
Abstract: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe inflammatory and hematologic disease caused by somatic mutations in UBA1. Canonical pathogenic mutations at UBA1 p.Met41 (M41) lead to the loss of the cytoplasmic… read more here.
Keywords: non m41; distinct characteristics; m41 non; m41 mutations ... See more keywords