Pathogenic UBA1 variants define a subset of relapsing polychondritis
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DOI: 10.1038/s41584-021-00624-z
Abstract: Two new studies have identified mutations in UBA1 associated with the newly identified condition VEXAS syndrome in cohorts of patients with relapsing polychondritis, supporting the concept that relapsing polychondritis is more than one disease. read more here.
Keywords: pathogenic uba1; polychondritis; variants define; define subset ... See more keywords