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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DGUOK

Variant:p.N253del1

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DGUOK

NM_080916.3:p.N253del1

hg38:chr2:73958194 CAAT>C

Associated Papers

Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.

Dombi E et al.

Frontiers in Cell and Developmental Biology, 2024

38665433 (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."