Varaico: Literature-Extracted Genetic Variants

Gene:SUCLG1
Variant:p.G251S
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SUCLG1

NM_003849.4:p.G251S

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

Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.

Wang H et al.

Frontiers in Cardiovascular Medicine, 2021

A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.

Kang L et al.

Journal of Inherited Metabolic Disease, 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

Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.

Liu Y et al.

Brain & Development, 2016

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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."