A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity
Rafiullah, Rafiullah, Long, Alyssa B., Ivanova, Anna A., Ali, Hazrat, Berkel, Simone, Mustafa, Ghulam, Paramasivam, Nagarajan, Schlesner, Matthias, Wiemann, Stefan, Wade, Rebecca C., Bolthauser, EugenLanguage:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/s41431-017-0031-0
Date:
November, 2017
File:
PDF, 2.13 MB
english, 2017