Mapping VEXAS ‐associated and rare UBA1 variants in the United Kingdom : Insights from patient cohorts and the general population

Abstract excerpt

Somatic mutations in UBA1 are linked to VEXAS syndrome, a late-onset inflammatory disorder with rheumatological and haematological features, primarily affecting elderly men. This study examines the epidemiology of VEXAS in the United Kingdom using genomic databases and patient cohorts to estimate prevalence, identify novel UBA1 variants and predict their pathogenicity. Analysing data from the UK Biobank, 100 000...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Otitis Media and Relapsing Polychondritis
• Share to Vascular Anomalies and Treatments