Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.T489S
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GAN

NM_022041.4:p.T489S

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

Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy.

Xu X et al.

Frontiers in Neuroscience, 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
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