Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.R501Splc
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GAN

NM_022041.4:p.R501Splc

Associated Papers

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Gangfuß A et al.

Journal of Neurology, 2024

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: cross-sectional analysis of a large natural history cohort.

Bharucha-Goebel DX et al.

Brain : a Journal of Neurology, 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

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

Giant axonal neuropathy: A differential diagnosis of consideration.

Edem P et al.

The Turkish Journal of Pediatrics, 2019

Giant axonal disease: Report of eight cases.

Incecik F et al.

Brain & Development, 2015

Clinicogenetical features of a Japanese patient with giant axonal neuropathy.

Akagi M et al.

Brain & Development, 2012

Giant axonal neuropathy: clinical and genetic study in six cases.

Demir E et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

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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."