Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.T117Splc
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NDUFS4

NM_002495.4:p.T117Splc

Associated Papers

Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.

van de Wal MAE et al.

Brain : a Journal of Neurology, 2022

The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.

Alston CL et al.

The Journal of Pathology, 2021

Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation.

González-Quintana A et al.

Molecular Genetics and Metabolism, 2020

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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."