Varaico: Literature-Extracted Genetic Variants

Gene:SUCLG1
Variant:p.L33Splc
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SUCLG1

NM_003849.4:p.L33Splc

Associated Papers

Impact of missense mutations on the structure-function relationship of human succinyl-CoA synthetase using in silico analysis.

Elabed S et al.

Mitochondrion, 2025

Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit.

Lancaster MS et al.

International Journal of Molecular Sciences, 2023

SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature.

Molaei Ramsheh S et al.

Molecular Biology Reports, 2020

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.

Donti TR et al.

Molecular Genetics and Metabolism, 2016

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.

Fragaki K et al.

Biological Research, 2016

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

Rouzier C et al.

Journal of Medical Genetics, 2010

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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."