Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1
Variant:p.G57R
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SDHAF1

NM_001042631.3:p.G57R

Associated Papers

Assembly of mitochondrial succinate dehydrogenase in human health and disease.

Cao K et al.

Free Radical Biology & Medicine, 2023

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

Mitochondrial Complex II: At the Crossroads.

Bezawork-Geleta A et al.

Trends in Biochemical Sciences, 2017

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

Maio N et al.

Cell Metabolism, 2016

Complex II deficiency--a case report and review of the literature.

Jain-Ghai S et al.

American Journal of Medical Genetics. Part A, 2013

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

Ohlenbusch A et al.

Orphanet Journal of Rare Diseases, 2012

Infantile mitochondrial encephalopathy.

Uziel G et al.

Seminars in Fetal & Neonatal Medicine, 2011

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Ghezzi D et al.

Nature Genetics, 2009

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."