Varaico: Literature-Extracted Genetic Variants

Gene:SUCLG1
Variant:p.R201G
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SUCLG1

NM_003849.4:p.R201G

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

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Lenz D et al.

Hepatology (baltimore, Md.), 2024

37976411 (PubMed )
Supplement: hep-79-1075-s005.xlsx › Sup_Table_4

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

Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome-9.

Chen YM et al.

Molecular Genetics & Genomic Medicine, 2022

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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."