Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.D175E
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AARS2

NM_020745.4:p.D175E

Associated Papers

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?

Zhang H et al.

Journal of Neurochemistry, 2021

The role of tRNA synthetases in neurological and neuromuscular disorders.

Boczonadi V et al.

Febs Letters, 2018

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Safka Brozkova D et al.

Brain : a Journal of Neurology, 2015

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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."