Varaico: Literature-Extracted Genetic Variants

Gene:MDH2
Variant:p.R104G
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MDH2

NM_005918.4:p.R104G

Associated Papers

Presentation of a missense MDH2 variant in a Greek patient with pheochromocytoma.

Papanastasiou L et al.

Hormones (athens, Greece), 2025

Genetics of MDH in humans.

Haberman A et al.

Essays in Biochemistry, 2024

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.

Priestley JRC et al.

Molecular Genetics and Metabolism Reports, 2022

Palmitoylation of MDH2 by ZDHHC18 activates mitochondrial respiration and accelerates ovarian cancer growth.

Pei X et al.

Science China. Life Sciences, 2022

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients.

Calsina B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."