Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.Q94_I95Splc
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GAN

NM_022041.4:p.Q94_I95Splc

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

Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients.

Leung CL et al.

Bmc Genetics, 2007

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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."