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Article

VEXAS-Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Jun 2024

Corty Robert W, Brogan James, Byram Kevin, Springer Jason, Grayson Peter C, Bick Alexander G

Abstract excerpt

OBJECTIVE: Somatic variants in UBA1 cause VEXAS, a recently described, systemic autoinflammatory disease. Research on VEXAS has largely focused on highly symptomatic patients. We sought to determine the prevalence of canonical, VEXAS-associated somatic variants and their disease penetrance in a diverse, unselected population. METHODS: We analyzed clinical-grade whole genome sequencing data from 245,368...

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Identifiers

PMID: 38225170
DOI: 10.1002/art.42802
PMCID: PMC11410361

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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