Varaico: Literature-Extracted Genetic Variants

Gene:IARS1
Variant:p.D364Y
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IARS1

NM_002161.6:p.D364Y

Associated Papers

Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.

Oprescu SN et al.

Methods (san Diego, Calif.), 2017

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

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."