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Novel Disease-Causing Mutations in UBA1 Reveal Disease Mechanisms in Bone Marrow Failure and Inflammation
Blood, 2022 Jason C Collins, Nicholas Balanda, Samuel J Magaziner, Maya English, Daniela Ospina Cardona, Mrinal M. Patnaik, Benjamin Terrier, Olivier Kosmider, Achim Werner, David B. Beck +9 moreopenaire +1 more sourceSomatic Mutations in a Single Residue of UBA1 Cause Vexas, a Severe Adult-Onset Rheumatic Disease Associated with Myeloid Dysplasia
, 2020 David B. Beck, Zhijie Wu, Bhavisha A. Patel, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Alina E. Dulau Florea, Weixin Wang, Emma M. Groarke, Shawn M. Burgess, Ivona Aksentijevich, Achim Werner, Neal S. Young, Katherine R. Calvo, Daniel L. Kastner, Peter C. Grayson +15 moreopenalex +1 more sourceFeatures of Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic mutation syndrome associated with the c.121A>C, p.(Met41Leu) UBA1 genetic variant: A systematic review
Muhammad Ali Mumtaz, Alyna Khan, P M Qureshi, Fnu Poombal, Lukáš Bauer, Ronny Rachman Noor, A Malik, Muhammad Khalid, Aziz Kamran +8 moreopenalex +1 more source