Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.S52N
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GAN

NM_022041.4:p.S52N

Associated Papers

Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.

Guo Y et al.

American Journal of Medical Genetics. Part A, 2022

Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India.

Mir YR et al.

Molecular Biology Reports, 2021

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

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.

Echaniz-Laguna A et al.

Neurogenetics, 2020

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