Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP1
Variant:p.Q447*
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RAB3GAP1

NM_012233.3:p.Q447*

Associated Papers

From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.

Mutlu Albayrak H et al.

American Journal of Medical Genetics. Part A, 2021

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Picker-Minh S et al.

Orphanet Journal of Rare Diseases, 2014

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

Aligianis IA et al.

Nature Genetics, 2005

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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."