Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP1
Variant:p.P248fs
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RAB3GAP1

NM_012233.3:p.P248fs

Associated Papers

Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission.

Giannakopoulou A

Folia Neuropathologica, 2017

A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration.

Mhlanga-Mutangadura T et al.

Journal of Veterinary Internal Medicine, 2016

A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs.

Mhlanga-Mutangadura T et al.

Neurobiology of Disease, 2016

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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."