Varaico: Literature-Extracted Genetic Variants

Gene:GARS1
Variant:p.P336H
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GARS1

NM_002047.4:p.P336H

Associated Papers

Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.

Mahmood M et al.

Iubmb Life, 2025

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Meyer AP et al.

Human Mutation, 2022

Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.

Nam DE et al.

Journal of the Peripheral Nervous System : Jpns, 2022

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