“Control of neuronal synapse specification by a highly dedicated alternative splicing program”
Traunmüller L, Gomez AM, Nguyen TM and Scheiffele P
Science. 2016 May 12
Pubmed
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…