Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.G570fs
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AARS2

NM_020745.4:p.G570fs

Associated Papers

Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons.

Podmanicky O et al.

Human Molecular Genetics, 2024

A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.

Song C et al.

Journal of Human Genetics, 2019

A homozygous mutation of alanyl-transfer RNA synthetase 2 in a patient of adult-onset leukodystrophy: A case report and literature review.

Wang JY et al.

Brain and Behavior, 2019

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.

Wang X et al.

Frontiers in Neurology, 2019

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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."