Associated Papers
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
Handley MT et al.
Open Biology, 2015
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Picker-Minh S et al.
Orphanet Journal of Rare Diseases, 2014
Rab18 and a Rab18 GEF complex are required for normal ER structure.
Gerondopoulos A et al.
The Journal of Cell Biology, 2014
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Handley MT et al.
Human Mutation, 2013
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