Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.R722W
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AARS2

NM_020745.4:p.R722W

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-Related Leukodystrophy: a Case Report and Literature Review.

Zhang X et al.

Cerebellum (london, England), 2023

[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].

Wu TH et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020

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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."