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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DGUOK

Variant:p.W229C

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DGUOK

NM_080916.3:p.W229C

hg38:chr2:73957220 G>C

Associated Papers

[DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].

Lin GZ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020

32204766 (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."