Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.D9delFs
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GAN

NM_022041.4:p.D9delFs

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

The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy.

Shi M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

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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."