Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.R118H
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DGUOK

NM_080916.3:p.R118H

Associated Papers

Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.

Vara R et al.

Journal of Inherited Metabolic Disease, 2023

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

Squires JE et al.

Hepatology Communications, 2023

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Almes M et al.

Diagnostics (basel, Switzerland), 2022

Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?

Hassan S et al.

Pediatric Transplantation, 2020

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.

Diogo L et al.

Pediatric Neurology, 2009

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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."