Varaico: Literature-Extracted Genetic Variants

Gene:GARS1
Variant:p.G294R
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GARS1

NM_002047.4:p.G294R

Associated Papers

Current Treatment Methods for Charcot-Marie-Tooth Diseases.

Dong H et al.

Biomolecules, 2024

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.

Forrest ME et al.

Cold Spring Harbor Molecular Case Studies, 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

Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.

Xie Y et al.

Frontiers in Neurology, 2020

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.

Scherrer C et al.

Journal of Tissue Engineering, 0

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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."