Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA5
Variant:p.N18Y
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NDUFA5

NM_005000.5:p.N18Y

Associated Papers

Crystal structure of the entire respiratory complex I.

Baradaran R et al.

Nature, 2013

23417064 (PubMed )
Supplement: NIHMS50981-supplement-1.pdf

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

Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

Howell N

Journal of Bioenergetics and Biomembranes, 1997

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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."