Varaico: Literature-Extracted Genetic Variants

Gene:MARS1
Variant:p.E688G
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MARS1

NM_004990.4:p.E688G

Associated Papers

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?

Zhang H et al.

Journal of Neurochemistry, 2021

Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.

Storkebaum E

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2016

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Bansagi B et al.

Journal of Neurology, 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."