Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.R592R
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AARS2

NM_020745.4:p.R592R

Associated Papers

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.

Mazurova S et al.

Cardiology in the Young, 2017

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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."