Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.A86fs
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DGUOK

NM_080916.3:p.A86fs

Associated Papers

Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

Hassaan HM et al.

American Journal of Medical Genetics. Part A, 2025

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Manzoni E et al.

Brain Communications, 2024

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

Natural history of deoxyguanosine kinase deficiency.

Keshavan N et al.

Molecular Genetics and Metabolism, 0

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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."