A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

European Journal of Human Genetics, Published online: 01 June 2021; doi:10.1038/s41431-021-00900-2A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Source: European Journal of Human Genetics - June 1, 2021 Category: Genetics & Stem Cells Authors: Elke de Boer Charlotte W. Ockeloen Leslie Matalonga Rita Horvath Richard J. Rodenburg Marieke J. H. Coenen Mirian Janssen Dylan Henssen Christian Gilissen Wouter Steyaert Ida Paramonov Aur élien Trimouille Tjitske Kleefstra Alain Verloes Lisenka E. L. M. Source Type: research