Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1
Variant:p.Q8*
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SDHAF1

NM_001042631.3:p.Q8*

Associated Papers

Assembly of mitochondrial succinate dehydrogenase in human health and disease.

Cao K et al.

Free Radical Biology & Medicine, 2023

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

Ohlenbusch A et al.

Orphanet Journal of Rare Diseases, 2012

The genetic basis of isolated mitochondrial complex II deficiency.

Fullerton M et al.

Molecular Genetics and Metabolism, 0

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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."