Varaico: Literature-Extracted Genetic Variants

Gene:HARS1
Variant:p.Y138H
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HARS1

NM_002109.6:p.Y138H

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

Characterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W.

Wilhelm SDP et al.

Iubmb Life, 2024

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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."