Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.E493A
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GAN

NM_022041.4:p.E493A

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

[Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation].

Imoto M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2023

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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."