Genetic & Genomic MedicinemedRxivPreprint
Genomic ascertainment for UBA1 variants and VEXAS syndrome: a population-based study
David B. Beck, Dale L. Bodian, Vandan Shah…·Douglas R. Stewart
This study uses genomic ascertainment to determine the prevalence and clinical features of pathogenic UBA1 variants in a population-based cohort, finding higher prevalence and expressivity than previously reported.
4 citations