Varaico: Literature-Extracted Genetic Variants

Gene:SUCLG1
Variant:p.N177_P178Splc
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SUCLG1

NM_003849.4:p.N177_P178Splc

Associated Papers

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

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A et al.

Molecular Genetics and Metabolism, 2012

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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."