Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV2
Variant:p.S224fs
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NDUFV2

NM_021074.5:p.S224fs

Associated Papers

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.

Liu Z et al.

Journal of Medical Genetics, 2022

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.

Cameron JM et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015

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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."