Varaico: Literature-Extracted Genetic Variants

Gene:MARS2
Variant:p.R592W
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MARS2

NM_138395.4:p.R592W

Associated Papers

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

Euro L et al.

Frontiers in Genetics, 2015

Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.

Schwenzer H et al.

Topics in Current Chemistry, 2014

Mitochondrial aminoacyl-tRNA synthetases in human disease.

Konovalova S et al.

Molecular Genetics and Metabolism, 2013

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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."