Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.R138L
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GAN

NM_022041.4:p.R138L

Associated Papers

Gigaxonin, mutated in Giant Axonal Neuropathy, interacts with TDP-43 and other RNA binding proteins.

Phillips CL et al.

Biorxiv : the Preprint Server for Biology, 2024

Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN).

Battaglia R et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Bharucha-Goebel DX et al.

Brain : a Journal of Neurology, 2021

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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."