Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.G180R
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SURF1

NM_003172.4:p.G180R

Associated Papers

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.

Inak G et al.

Nature Communications, 2021

Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India.

Sonam K et al.

Mitochondrion, 2017

Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.

Sonam K et al.

Brain & Development, 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."