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Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Müller F, Neuser S, Shrestha G, Neupane NP, Götze KJ, Brunetti-Pierri N, Terrone G, Reymond A, van Gassen KL, Brilstra E, Steindl K, Begemann A, Rauch A, Rips J, Fahham D, Barakat TS, Patat O, Mortreux J, Chau MHK, Rosenfeld JA, Mizerik E, Srivastava S, Luo X, Dahse AK, Scholz N, Das J, Roman G, Langenhan T, Abou Jamra R, Mrestani A, Ljaschenko D. Müller F, et al. Among authors: luo x. Biochem Biophys Rep. 2025 Nov 28;45:102375. doi: 10.1016/j.bbrep.2025.102375. eCollection 2026 Mar. Biochem Biophys Rep. 2025. PMID: 41399760 Free PMC article.
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
Ma M, Zheng Y, Deng M, Lu S, Pan X, Luo X, Etoundi M, Li-Kroeger D, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Otten CE, Blanc P, Rosenfeld JA, Dutta D, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Glass IA, Chen J, Blue E, Prontera P, Rosain J, Marlin S, Lalani SR, Bellen HJ. Ma M, et al. Among authors: luo x. medRxiv [Preprint]. 2025 May 29:2024.01.08.23300523. doi: 10.1101/2024.01.08.23300523. medRxiv. 2025. Update in: Elife. 2025 Aug 27;13:RP95887. doi: 10.7554/eLife.95887. PMID: 38260438 Free PMC article. Updated. Preprint.
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