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RNA-sequencing Improves Diagnosis for Neurodevelopmental Disorders by Identifying Pathogenic Non-Coding Variants and Reinterpretation of Coding Variants

Jordy Dekker,Rachel Schot,Michiel Bongaerts,Walter de Valk,Monique M. van Veghel-Plandsoen,Kathryn Monfils,Hannie Douben,Peter Elfferich,Esmee Kasteleijn,Leontine M. A. van Unen,Geert Geeven,Jasper J. Saris,Yvette Van Ierland,Frans W. Verheijen,Marianne L. T. van der Sterre,Farah Sadeghi Niaraki,Hidde H. Huidekoper,Monique Williams,Martina Wilke,Virginie Verhoeven,Marieke Joosten,Anneke Kievit,Ingrid M. B. H. van de Laar,Lies Hoefsloot,Marianne Hoogeveen-Westerveld,Mark Nellist,Grazia Mancini,Tjakko Van Ham

medRxiv (Cold Spring Harbor Laboratory)（2022）

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关键词
RNA methylation,RNA Phase Transitions,tRNA fragments,mRNA modification,Gene Expression Regulation
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