Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1
Variant:p.E51V
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SDHAF1

NM_001042631.3:p.E51V

Associated Papers

Assembly of mitochondrial succinate dehydrogenase in human health and disease.

Cao K et al.

Free Radical Biology & Medicine, 2023

A variant of uncertain significance in SDHAF1, the succinate dehydrogenase chaperone protein, in an adult patient with spastic paraparesis and leukoencephalopathy.

Vlahovic L et al.

Multiple Sclerosis and Related Disorders, 2021

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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."