Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
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Kozycki CT, et al.
Ann Rheum Dis. 2022 Jul 22:annrheumdis-2022-222629. doi: 10.1136/annrheumdis-2022-222629. Online ahead of print.
Ann Rheum Dis. 2022.
PMID: 35868845