Varaico: Literature-Extracted Genetic Variants

Gene:TK2
Variant:p.S135L
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TK2

NM_004614.5:p.S135L

Associated Papers

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C et al.

Journal of Medical Genetics, 2018

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

Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.

Sun R et al.

Biochemistry, 2014

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

Chanprasert S et al.

Molecular Genetics and Metabolism, 0

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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."