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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yiş U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J, Jordanova A. Armirola-Ricaurte C, et al. Among authors: zonnekein n. Genet Med. 2024 Jun;26(6):101117. doi: 10.1016/j.gim.2024.101117. Epub 2024 Mar 6. Genet Med. 2024. PMID: 38459834 Free PMC article.