Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.L138P
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NDUFV1

NM_007103.4:p.L138P

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

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

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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."