Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement

Autor: Le Duc, Diana, Horn, Susanne, Jamra, Rami Abou, Schaper, Jörg, Wieczorek, Dagmar, Redler, Silke
Zdroj: In European Journal of Medical Genetics February 2020 63(2)
Databáze: ScienceDirect