Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability
Bertoli-Avella, Aida M., Garcia-Aznar, Jose M., Brandau, Oliver, Al-Hakami, Fahad, Yüksel, Zafer, Marais, Anett, Grüning, Nana-Maria, Abbasi Moheb, Lia, Paknia, Omid, Alshaikh, Nahla, Alameer, Seham,Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/s41431-018-0097-3
Date:
February, 2018
File:
PDF, 954 KB
english, 2018