Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.K236Splc
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DGUOK

NM_080916.3:p.K236Splc

Associated Papers

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Manzoni E et al.

Brain Communications, 2024

38756539 (PubMed )
Supplement: fcae160_supplementary_data.zip › Supplementary_Tables.pdf

Comment on "CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions".

Finsterer J

Case Reports in Neurological Medicine, 2020

CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.

Montano V et al.

Case Reports in Neurological Medicine, 2019

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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."