Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome
Filatova, Alexandra, Freire, Valeria, Lozier, Ekaterina, Konovalov, Fedor, Bessonova, Ludmila, Iudina, Elena, Gnetetskaya, Valentina, Kanivets, Ilya, Korostelev, Sergey, Skoblov, MikhailLanguage:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.13472
Date:
November, 2018
File:
PDF, 635 KB
english, 2018