Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA1
Variant:p.R50K
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NDUFA1

NM_004541.4:p.R50K

Associated Papers

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Fernandez-Moreira D et al.

Annals of Neurology, 2007

Molecular genetics of complex I-deficient Chinese hamster cell lines.

Scheffler IE et al.

Biochimica Et Biophysica Acta, 2004

Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I.

Yadava N et al.

The Journal of Biological Chemistry, 2002

Molecular genetics of the mammalian NADH-ubiquinone oxidoreductase.

Scheffler IE et al.

Journal of Bioenergetics and Biomembranes, 2001

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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."