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Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.
Lee S, Yoon JG, Hong J, Kim T, Kim N, Vandrovcova J, Yau WY, Cho J, Kim S, Kim MJ, Kim SY, Lee ST, Chu K, Lee SK, Kim HJ, Choi J, Moon J, Chae JH. Lee S, et al. Among authors: lee sk, lee st. Neurol Genet. 2024 May 20;10(3):e200147. doi: 10.1212/NXG.0000000000200147. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38779172 Free PMC article.
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
Yoon JG, Lim SK, Seo H, Lee S, Cho J, Kim SY, Koh HY, Poduri AH, Ramakumaran V, Vasudevan P, de Groot MJ, Ko JM, Han D, Chae JH, Lee CH. Yoon JG, et al. Among authors: lee ch, lee s. Am J Hum Genet. 2024 Aug 8;111(8):1588-1604. doi: 10.1016/j.ajhg.2024.06.015. Epub 2024 Jul 23. Am J Hum Genet. 2024. PMID: 39047730 Free PMC article.
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