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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DGUOK

Variant:p.Q221P

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DGUOK

NM_080916.3:p.Q221P

hg38:chr2:73957195 A>C

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

Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.

Waich S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2019

30589726 (PubMed )

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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."