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Web-accessible Application for Identifying Pathogenic Transcripts with RNA-seq: Increased Sensitivity in Diagnosis of Neurodevelopmental Disorders.

Jordy Dekker,Rachel Schot,Michiel Bongaerts,Walter G. 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,Daphne J. Smits,Hidde H. Huidekoper,Monique Williams,Martina Wilke,Virginie J. M. Verhoeven,Marieke Joosten,Anneke J. A. Kievit,Ingrid M. B. H. van de Laar,Lies H. Hoefsloot,Marianne Hoogeveen-Westerveld,Mark Nellist,Grazia M. S. Mancini,Tjakko J. van Ham

The American Journal of Human Genetics（2023）

引用 6|浏览52
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关键词
RNA-sequencing,transcriptomics,mRNA splicing,neurodevelopmental disorder,molecular diagnostics,web browser application
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