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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, Rita Horvath, Solve-RD SNV-indel working group, Richard J Rodenburg, Marieke JH Coenen, Mirian Janssen, Dylan Henssen, Christian Gilissen, Wouter Steyaert, Ida Paramonov, Solve-RD-DITF-ITHACA, Aurélien Trimouille, Tjitske Kleefstra, Alain Verloes, Lisenka ELM Vissers
OAI: oai:www.repository.cam.ac.uk:1810/328490 • DOI: 10.17863/CAM.75938