Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Irene A Aligianis, Colin A Johnson, Paul Gissen, Dongrong Chen, Daniel Hampshire, Katrin Hoffmann, Esther N Maina, Neil V Morgan, Louise Tee, Jenny Morton, John R Ainsworth, Denise Horn, Elisabeth Rosser, Trevor R P Cole, Irene Stolte-Dijkstra, Karen Fieggen, Jill Clayton-Smith, André Mégarbané, Julian P Shield, Ruth Newbury-EcobWilliam B Dobyns, John M Graham, Klaus Wilbrandt Kjær, Mette Warburg, Jacqueline Bond, Richard C Trembath, Laura W Harris, Yoshimi Takai, Stefan Mundlos, David Tannahill, C Geoffery Woods, Eamonn R Maher

153 Citations (Scopus)

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Medicine & Life Sciences