Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP1
Variant:p.P248delFs
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RAB3GAP1

NM_012233.3:p.P248delFs

Associated Papers

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.

Cocostîrc V et al.

Animals : an Open Access Journal From Mdpi, 2023

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.

Meadows JRS et al.

Genome Biology, 2023

37582787 (PubMed )
Supplement: 13059_2023_3023_MOESM1_ESM.xlsx › Table_S16

Polyneuropathy in Young Siberian Huskies Caused by Degenerative and Inflammatory Diseases.

Jahns H et al.

Veterinary Pathology, 2020

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

A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).

Wiedmer M et al.

G3 (bethesda, Md.), 2015

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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."