Associated Papers
Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts.
Noël E et al.
Acta Neuropathologica Communications, 2025
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Picker-Minh S et al.
Orphanet Journal of Rare Diseases, 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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