Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.Y299C
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GAN

NM_022041.4:p.Y299C

Associated Papers

Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.

Guo Y et al.

American Journal of Medical Genetics. Part A, 2022

Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.

Vafaee-Shahi M et al.

Current Journal of Neurology, 2020

The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy.

Roth LA et al.

Neuromuscular Disorders : Nmd, 2014

Clinicogenetical features of a Japanese patient with giant axonal neuropathy.

Akagi M et al.

Brain & Development, 2012

Crystal structure of the Kelch domain of human Keap1.

Li X et al.

The Journal of Biological Chemistry, 2004

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

Bruno C et al.

Neurology, 2004

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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."