Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.A6_V7insFs
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GAN

NM_022041.4:p.A6_V7insFs

Associated Papers

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

Kelch-like proteins: Physiological functions and relationships with diseases.

Shi X et al.

Pharmacological Research, 2019

Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.

Ding J et al.

Human Molecular Genetics, 2006

Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.

Wang W et al.

Current Biology : Cb, 2005

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

Kuhlenbäumer G et al.

Neurology, 2002

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Bomont P et al.

Nature Genetics, 2000

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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."