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A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.
Takeda Y, Ueki M, Matsuhiro J, Walinda E, Tanaka T, Yamada M, Fujita H, Takezaki S, Kobayashi I, Tamaki S, Nagata S, Miyake N, Matsumoto N, Osawa M, Yasumi T, Heike T, Ohtake F, Saito MK, Toguchida J, Takita J, Ariga T, Iwai K. Takeda Y, et al. Among authors: matsuhiro j. J Exp Med. 2024 Jun 3;221(6):e20231941. doi: 10.1084/jem.20231941. Epub 2024 Apr 23. J Exp Med. 2024. PMID: 38652464 Free PMC article.