Varaico: Literature-Extracted Genetic Variants

Gene:SUCLA2
Variant:p.R284H
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SUCLA2

NM_003850.3:p.R284H

Associated Papers

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Su L et al.

Orphanet Journal of Rare Diseases, 2024

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

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.

Lim AZ et al.

Annals of Neurology, 2022

[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes].

Dai LF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

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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."