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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Kueh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liégeois FJ, Morell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS. Morgan AT, et al. Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314. Brain. 2023. PMID: 37977818 Free PMC article.