Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.R545L
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GAN

NM_022041.4:p.R545L

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

Two novel mutations in the GAN gene causing giant axonal neuropathy.

Normendez-Martínez MI et al.

World Journal of Pediatrics : Wjp, 2018

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