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Amedeo Smart
Independent Medical Education
Greene D, De Wispelaere K, Lees J, Codina-Sola M, et al. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy. Nat Genet 2025 Apr 10. doi: 10.1038/s41588-025-02159.PMID: 40210679
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