Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.D163_I164insFs
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DGUOK

NM_080916.3:p.D163_I164insFs

Associated Papers

Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.

Schijvens AM et al.

Kidney International Reports, 2020

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

Poulton J et al.

Biochimica Et Biophysica Acta, 2009

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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."