Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.R206K
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DGUOK

NM_080916.3:p.R206K

Associated Papers

Mitochondrial depletion syndrome type 3: the Lebanese variant.

Majdalani M et al.

Frontiers in Genetics, 2023

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

Fang W et al.

Oncotarget, 2017

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Alfadhel M et al.

Orphanet Journal of Rare Diseases, 2016

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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."