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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

Kozycki, Christina Torres, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake Warner, Priyam Jani, Dima Hammoud, et al. 2022. “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”. Ann Rheum Dis 81 (10): 1453-64.