Varaico: Literature-Extracted Genetic Variants

Gene:GLE1
Variant:p.R655Splc
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GLE1

NM_001003722.2:p.R655Splc

Associated Papers

Amyotrophic lateral sclerosis.

Younger DS et al.

Handbook of Clinical Neurology, 2023

Multiple ways to a dead end: diverse mechanisms by which ALS mutant genes induce cell death.

Tsai YL et al.

Cell Cycle (georgetown, Tex.), 2021

Mutation Screening of the GLE1 Gene in a Large Chinese Cohort of Amyotrophic Lateral Sclerosis Patients.

Li Y et al.

Frontiers in Neuroscience, 2021

An amyotrophic lateral sclerosis-linked mutation in GLE1 alters the cellular pool of human Gle1 functional isoforms.

Aditi et al.

Advances in Biological Regulation, 2016

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Kaneb HM et al.

Human Molecular Genetics, 2015

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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."