Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA1
Variant:p.S55A
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NDUFA1

NM_004541.4:p.S55A

Associated Papers

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

Fiorini C et al.

Brain : a Journal of Neurology, 2025

Disease models of Leigh syndrome: From yeast to organoids.

Henke MT et al.

Journal of Inherited Metabolic Disease, 2024

An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.

Kim C et al.

Neurochemistry International, 2017

Investigations of the potential effects of phosphorylation of the MWFE and ESSS subunits on complex I activity and assembly.

Yadava N et al.

The International Journal of Biochemistry & Cell Biology, 2008

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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."