“TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways”
De Conti L, Akinyi MV, Mendoza-Maldonado R, Romano M, Baralle M, Buratti E.
NAR. 2015 Aug.
Categories: Article
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 Read more…