Varaico: Literature-Extracted Genetic Variants

Gene:DARS1
Variant:p.M256L
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DARS1

NM_001349.4:p.M256L

Associated Papers

Aminoacyl-tRNA synthetase defects in neurological diseases.

Zhang H et al.

Iubmb Life, 2025

Recessive aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models.

Kalotay E et al.

Frontiers in Neuroscience, 2023

Developmental delay and late onset HBSL pathology in hypomorphic Dars1M256L mice.

Klugmann M et al.

Neurochemical Research, 2022

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

Zhu J et al.

Frontiers in Genetics, 2022

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."