Varaico: Literature-Extracted Genetic Variants

Gene:DARS1
Variant:p.A274V
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DARS1

NM_001349.4:p.A274V

Associated Papers

Aminoacyl-tRNA synthetase defects in neurological diseases.

Zhang H et al.

Iubmb Life, 2025

Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations.

Zhu J et al.

Frontiers in Genetics, 2022

A Hypomorphic Dars1 D367Y Model Recapitulates Key Aspects of the Leukodystrophy HBSL.

Fröhlich D et al.

Frontiers in Cellular Neuroscience, 2020

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Taft RJ et al.

American Journal of Human Genetics, 2013

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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."