Varaico: Literature-Extracted Genetic Variants

Gene:TK2
Variant:p.T64M
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TK2

NM_004614.5:p.T64M

Associated Papers

Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.

Moreno CAM et al.

Scientific Reports, 2025

The population genetics of human disease: The case of recessive, lethal mutations.

Amorim CEG et al.

Plos Genetics, 2017

28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2

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

Sun R et al.

Biochemistry, 2014

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.

Grönlund MA et al.

The British Journal of Ophthalmology, 2010

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

Tulinius M et al.

Neuromuscular Disorders : Nmd, 2005

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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."