Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.V200M
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AARS2

NM_020745.4:p.V200M

Associated Papers

Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.

Kim YG et al.

Brain Communications, 2023

37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › Supplementary_Table_1_and_Supplementary_References.docx

Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.

Storkebaum E

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2016

GARS axonopathy: not every neuron's cup of tRNA.

Motley WW et al.

Trends in Neurosciences, 2010

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