Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.R39*
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DGUOK

NM_080916.3:p.R39*

Associated Papers

Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.

Squires JE et al.

Hepatology Communications, 2023

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

McKiernan P et al.

Journal of Pediatric Gastroenterology and Nutrition, 2016

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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."