De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.
Quinodoz M, Rutz S, Peter V, Garavelli L, Innes AM, Lehmann EF, Kellenberger S, Peng Z, Barone A, Campos-Xavier B, Unger S, Rivolta C, Dutzler R, Superti-Furga A.
Quinodoz M, et al. Among authors: peter v.
EMBO J. 2025 Jan;44(2):413-436. doi: 10.1038/s44318-024-00322-y. Epub 2024 Dec 2.
EMBO J. 2025.
PMID: 39623139
Free PMC article.