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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DGUOK

Variant:p.V137E

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DGUOK

NM_080916.3:p.V137E

hg38:chr2:73946873 T>A

Associated Papers

Natural history of deoxyguanosine kinase deficiency.

Keshavan N et al.

Molecular Genetics and Metabolism, 0

39079226 (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."