Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF2
Variant:p.M1T
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NDUFAF2

NM_174889.5:p.M1T

Associated Papers

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.

Nouws J et al.

Brain : a Journal of Neurology, 2012

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Saada A et al.

American Journal of Human Genetics, 2009

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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."