Varaico: Literature-Extracted Genetic Variants

Gene:TK2
Variant:p.C66W
Back to variants list

TK2

NM_004614.5:p.C66W

Associated Papers

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C et al.

Journal of Medical Genetics, 2018

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."