Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.S7*
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NDUFS4

NM_002495.4:p.S7*

Associated Papers

Disease models of Leigh syndrome: From yeast to organoids.

Henke MT et al.

Journal of Inherited Metabolic Disease, 2024

Neuroligin-mediated neurodevelopmental defects are induced by mitochondrial dysfunction and prevented by lutein in C. elegans.

Maglioni S et al.

Nature Communications, 2022

Activated microglia and neuroinflammation as a pathogenic mechanism in Leigh syndrome.

Daneshgar N et al.

Frontiers in Neuroscience, 2022

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Melcher M et al.

Stem Cell Research & Therapy, 2017

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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."