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Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B; EuroEPINOMICS-RES Dravet working group; Gunning B, Hardies K, Jennesson M, Legoff L, Linnankivi T, Prouteau C, Smal N, Spodenkiewicz M, Toelle SP, Van Gassen K, Van Paesschen W, Verbeek N, Ziegler A, Zweier M, Horn AHC, Sticht H, Lerche H, Weckhuysen S, Strauß O, Rauch A. Yang F, et al. Am J Hum Genet. 2024 May 10:S0002-9297(24)00129-0. doi: 10.1016/j.ajhg.2024.04.014. Online ahead of print. Am J Hum Genet. 2024. PMID: 38744284
Impurity study of tecovirimat.
Bonku EM, Qin H, Odilov A, Abduahadi S, Desta Guma S, Yang F, Xing X, Wang X, Shen J. Bonku EM, et al. Among authors: yang f. Heliyon. 2024 May 2;10(9):e29559. doi: 10.1016/j.heliyon.2024.e29559. eCollection 2024 May 15. Heliyon. 2024. PMID: 38742068 Free PMC article.
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