Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.L248P
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DGUOK

NM_080916.3:p.L248P

Associated Papers

Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.

Borreguero CF et al.

International Journal of Obesity (2005), 2023

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.

Shimura M et al.

Orphanet Journal of Rare Diseases, 2020

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.

Yamazaki T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 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."