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In Am J Hum Genet.: Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders. Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Marion Lesieur-Sebellin, Delphine Heron, Jean-Madeleine de Sainte Agathe, Solveig Heide, Elodie Lejeune, Chloe Quelin, François Lecoquierre, Mathilde Nizon, Bertrand Isidor, Thomas Besnard, Benjamin Cogne, Read more…

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In Transplantation: Archetypal Analysis of Kidney Allograft Biopsies Using Next-generation Sequencing Technology

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In Genome Biol: Microsatellite instability at U2AF-binding polypyrimidic tract sites perturbs alternative splicing during colorectal cancer initiation

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In Nucleic Acids Res: Differential expression of paralog RNA binding proteins establishes a dynamic splicing program required for normal cerebral cortex development

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