Article

Analysis of 245,368 diverse individuals from the NIH All of Us Cohort identifies incomplete penetrance of the VEXAS-defining UBA1 p.M41L somatic mutation

2023-11-08

Abstract excerpt

<h4>Objective</h4> Somatic mutations in UBA1 cause the recently described systemic auto-inflammatory syndrome, VEXAS. Study of this disease has largely been limited to highly symptomatic patients. We sought to determine the prevalence of VEXAS-associated somatic mutations and their disease penetrance in a diverse, unselected population. <h4>Methods</h4> We analyzed clinical-grade whole genome sequencing data from...

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Literature Corpus work: 66ce17e2-7082-5df8-8519-6a05bcf03f3a
DOI: 10.1101/2023.11.07.23298212

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