Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.P347Splc
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AARS2

NM_020745.4:p.P347Splc

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

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.

Fan Y et al.

Bmc Neurology, 2022

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3

Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia.

Kim EJ et al.

Neurobiology of Aging, 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."