Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.F256insFs
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DGUOK

NM_080916.3:p.F256insFs

Associated Papers

Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.

Almuqbil M et al.

Children (basel, Switzerland), 2025

40868553 (PubMed )
Supplement: children-12-01102-s001.zip › children-3727203-supplementary.pdf

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.

Mousson de Camaret B et al.

The Biochemical Journal, 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."