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Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong MK, Ho G, Tormo M, Yagüe J, Shon W, Wallace DJ, Casals F, Beck DB, Abuav R, Arostegui JI. Ospina Cardona D, et al. Among authors: iosim s. Rheumatology (Oxford). 2024 Oct 1;63(10):2897-2902. doi: 10.1093/rheumatology/keae201. Rheumatology (Oxford). 2024. PMID: 38552317 Free PMC article.