Varaico: Literature-Extracted Genetic Variants

Gene:SUCLG1
Variant:p.A113_T114del2
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SUCLG1

NM_003849.4:p.A113_T114del2

Associated Papers

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

Disorders caused by deficiency of succinate-CoA ligase.

Ostergaard E

Journal of Inherited Metabolic Disease, 2008

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Ostergaard E et al.

American Journal of Human Genetics, 2007

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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."