Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.G270S
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GAN

NM_022041.4:p.G270S

Associated Papers

Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.

Hobara T et al.

Journal of Neurology, 2025

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

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.

Echaniz-Laguna A et al.

Neurogenetics, 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

Successful immunoglobulin treatment in a case of epileptic encephalopathy.

Motoki T et al.

No to Hattatsu = Brain and Development, 2016

A mild case of giant axonal neuropathy without central nervous system manifestation.

Koichihara R et al.

Brain & Development, 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."