Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP1
Variant:p.A134_S136delFs
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RAB3GAP1

NM_012233.3:p.A134_S136delFs

Associated Papers

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."