Varaico: Literature-Extracted Genetic Variants

Gene:SUCLA2
Variant:p.K369insFs
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SUCLA2

NM_003850.3:p.K369insFs

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

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.

Forny P et al.

Nature Metabolism, 2023

36717752 (PubMed )
Supplement: 42255_2022_720_MOESM1_ESM.pdf

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Carrozzo R et al.

Journal of Inherited Metabolic Disease, 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."