Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA6
Variant:p.M104fs
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NDUFA6

NM_002490.6:p.M104fs

Associated Papers

Loss of heterozygosity exposes germline mutations in complex I and drives Warburg metabolism in oncocytic carcinoma of the thyroid.

de la Calle Arregui C et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

Analysis of Human Mutations in the Supernumerary Subunits of Complex I.

Dang QL et al.

Life (basel, Switzerland), 2020

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Alston CL et al.

American Journal of Human Genetics, 2018

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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."