Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.E121fs
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NDUFV1

NM_007103.4:p.E121fs

Associated Papers

Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report.

Chapleau A et al.

Frontiers in Cellular Neuroscience, 2023

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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."