Article

Genomic ascertainment for <i>UBA1</i> variants and VEXAS syndrome: a population-based study

2022-08-01

Abstract excerpt

<h4>Importance</h4> VEXAS (vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic) syndrome is a disease with rheumatologic and hematologic features caused by somatic variants in UBA1 . Pathogenic variants are associated with a broad spectrum of clinical manifestations. Knowledge of prevalence, penetrance, and clinical characteristics of this disease have been limited by ascertainment biases...

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Literature Corpus work: bdc3122b-c52b-5b80-9cde-10e220e279b7
DOI: 10.1101/2022.07.27.22277962

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