Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.P246R
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DGUOK

NM_080916.3:p.P246R

Associated Papers

A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.

Fang W et al.

Oncotarget, 2017

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Poulton J et al.

Biochimica Et Biophysica Acta, 2009

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Dimmock DP et al.

Human Mutation, 2008

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Sarzi E et al.

The Journal of Pediatrics, 2007

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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."