Genomic ascertainment for UBA1 variants and VEXAS syndrome: a population-based study
David B. Beck, Dale L. Bodian, Vandan Shah, Uyenlinh L. Mirshahi, Jung Kim, Yi Ding, Natasha T. Strande, Anna Cantor, Jeremy S. Haley, Adam Cook, Wesley Hill, Peter C. Grayson, Marcela A. Ferrada, Daniel L. Kastner, David J. Carey, 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.
medRxiv · Jul 27, 2022 · PreprintGenetic & Genomic Medicine