A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activityA novel homozygous <i>ARL13B</i> variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity, Published online: 15 November 2017; doi:10.1038/s41431-017-0031-0

Source: European Journal of Human Genetics - November 15, 2017 Category: Genetics & Stem Cells Authors: Rafiullah Rafiullah Alyssa B. Long Anna A. Ivanova Hazrat Ali Simone Berkel Ghulam Mustafa Nagarajan Paramasivam Matthias Schlesner Stefan Wiemann Rebecca C. Wade Eugen Bolthauser Martin Blum Richard A. Kahn Tamara Caspary Gudrun A. Rappold Source Type: research