Varaico: Literature-Extracted Genetic Variants

Gene:GARS1
Variant:p.R596Q
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GARS1

NM_002047.4:p.R596Q

Associated Papers

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.

Boczonadi V et al.

Human Molecular Genetics, 2018

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.

McMillan HJ et al.

Bmc Medical Genetics, 2014

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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."