Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.L53P
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NDUFV1

NM_007103.4:p.L53P

Associated Papers

NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.

Zanette V et al.

Genetics and Molecular Biology, 2021

MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.

Sofou K et al.

Mitochondrion, 2013

Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.

Grönlund MA et al.

The British Journal of Ophthalmology, 2010

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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."