Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.P60H
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AARS2

NM_020745.4:p.P60H

Associated Papers

Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.

Mao C et al.

Journal of Molecular Neuroscience : Mn, 2025

AARS2-Related Leukodystrophy: a Case Report and Literature Review.

Zhang X et al.

Cerebellum (london, England), 2023

Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy.

Chakraborty AP et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022

The emerging neurological spectrum of AARS2-associated disorders.

Parra SP et al.

Parkinsonism & Related Disorders, 2021

AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.

Tang Y et al.

Molecular Genetics & Genomic Medicine, 2019

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies.

Wang X et al.

Frontiers in Neurology, 2019

AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Wang D et al.

Journal of Neuropathology and Experimental Neurology, 2018

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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."