Varaico: Literature-Extracted Genetic Variants

Gene:SUCLA2
Variant:p.G324S
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SUCLA2

NM_003850.3:p.G324S

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

The clinical and genetic characteristics in children with mitochondrial disease in China.

Fang F et al.

Science China. Life Sciences, 2017

Novel mutation in SUCLA2 identified on sequencing analysis.

Güngör O et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].

Liu Z et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

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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."