Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.R162*
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GAN

NM_022041.4:p.R162*

Associated Papers

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2024

39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND

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

Clinicogenetical features of a Japanese patient with giant axonal neuropathy.

Akagi M et al.

Brain & Development, 2012

Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features.

Garg M et al.

Annals of Indian Academy of Neurology, 0

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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."