Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.Q568fs
Back to variants list

AARS2

NM_020745.4:p.Q568fs

Associated Papers

Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.

Lee GY et al.

Kidney International Reports, 2025

41141493 (PubMed )
Supplement: mmc1.pdf

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."