Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.M443K
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NDUFS2

NM_001377299.1:p.M443K

Associated Papers

Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

Ngu LH et al.

Biochimica Et Biophysica Acta, 2012

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA et al.

Brain : a Journal of Neurology, 2010

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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."