Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP1
Variant:p.K596_G597delFs
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RAB3GAP1

NM_012233.3:p.K596_G597delFs

Associated Papers

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Picker-Minh S et al.

Orphanet Journal of Rare Diseases, 2014

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Morris-Rosendahl DJ et al.

European Journal of Human Genetics : Ejhg, 2010

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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."