Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.F84L
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NDUFS2

NM_001377299.1:p.F84L

Associated Papers

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

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Koene S et al.

Journal of Inherited Metabolic Disease, 2012

22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1

Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.

Willis JH et al.

Biochimica Et Biophysica Acta, 2009

Application of the yeast Yarrowia lipolytica as a model to analyse human pathogenic mutations in mitochondrial complex I (NADH:ubiquinone oxidoreductase).

Kerscher S et al.

Biochimica Et Biophysica Acta, 2004

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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."