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Loss-of-Function Mutations in RAB18 Cause Warburg Micro SyndromeDOI 10.1016/j.ajhg.2011.04.009
Loss-of-function mutations in RAB18 cause Warburg micro syndrome.Semantic proximity
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.Semantic proximity
A novel mouse model of Warburg Micro Syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeletonSemantic proximity
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.Semantic proximity
Rab18 and a Rab18 GEF complex are required for normal ER structure.Semantic proximity
Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2BSemantic proximity
RAB18, a protein associated with Warburg Micro syndrome, controls neuronal migration in the developing cerebral cortexSemantic proximity
Rab18: new insights into the function of an essential proteinSemantic proximity
Warburg Micro syndrome.Semantic proximity
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?Semantic proximity
RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.Semantic proximity
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.Semantic proximity
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