Varaico: Literature-Extracted Genetic Variants

Gene:SUCLG1
Variant:p.S200F
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SUCLG1

NM_003849.4:p.S200F

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

Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.

Maalej M et al.

Biochemical and Biophysical Research Communications, 2018

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

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

Sakamoto O et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2011

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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."