Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.L199L
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ARSA

NM_000487.6:p.L199L

Associated Papers

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

AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.

Tang Y et al.

Molecular Genetics & Genomic Medicine, 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."