Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.P217L
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AARS2

NM_020745.4:p.P217L

Associated Papers

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

Zhang X et al.

Cerebellum (london, England), 2023

The emerging neurological spectrum of AARS2-associated disorders.

Parra SP et al.

Parkinsonism & Related Disorders, 2021

Case report: 'AARS2 leukodystrophy'.

Axelsen TM et al.

Molecular Genetics and Metabolism Reports, 2021

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

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

An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report.

Dong Q et al.

Journal of Human Genetics, 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."