Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).
Tejada MI, Villate O, Ibarluzea N, de la Hoz AB, Martínez-Bouzas C, Beristain E, Martínez F, Friez MJ, Sobrino B, Barros F. Front Genet. 2019; 10:1074. Epub 2019 Oct 31.