Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA1
Variant:p.I18F
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NDUFA1

NM_004541.4:p.I18F

Associated Papers

Coenzyme Q10 trapping in mitochondrial complex I underlies Leber's hereditary optic neuropathy.

Fuller JT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease.

Wallace DC et al.

Handbook of Experimental Pharmacology, 2017

The mitochondrial-encoded subunits of respiratory complex I (NADH:ubiquinone oxidoreductase): identifying residues important in mechanism and disease.

Bridges HR et al.

Biochemical Society Transactions, 2011

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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."