Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.Q44*
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GAN

NM_022041.4:p.Q44*

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

E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.

Lescouzères L et al.

Frontiers in Physiology, 2020

33192535 (PubMed )
Supplement: Table_1.pdf

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

Aharoni S et al.

Bmc Medical Genetics, 2016

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

Roth LA et al.

Neuromuscular Disorders : Nmd, 2014

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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."