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Published in 2022 at "Blood"
DOI: 10.1182/blood.2022016985
Abstract: Somatic mutations in UBA1 cause VEXAS (Vacuoles, E1 ubiquitin activating enzyme, X-linked, Autoinflammatory Somatic) syndrome, an adult-onset inflammatory disease with an overlap of hematologic manifestations. VEXAS syndrome is characterized by a high mortality rate and…
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Keywords:
cytoplasmic uba1;
uba1 contributes;
pathogenesis;
vexas syndrome ... See more keywords