Leiden University Scholarly Publications

Lardelli, R.M.; Schaffer, A.E.; Eggens, V.R.C.; Zaki, M.S.; Grainger, S.; Sathe, S.; ... ; Gleeson, J.G. 2017

Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Article / Letter to editor

open access