Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.L156R
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OPA1

NM_130837.3:p.L156R

Associated Papers

Inhibition of ATP synthase reverse activity restores energy homeostasis in mitochondrial pathologies.

Acin-Perez R et al.

The Embo Journal, 2023

36912136 (PubMed )
Supplement: EMBJ-42-e111699-s005.pdf

Mitochondrial Retinopathies.

Zeviani M et al.

International Journal of Molecular Sciences, 2021

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Uittenbogaard M et al.

Molecular Genetics and Metabolism, 2018

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S et al.

Human Mutation, 2013

Mitochondrial DNA mutations provoke dominant inhibition of mitochondrial inner membrane fusion.

Sauvanet C et al.

Plos One, 2012

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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."