Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.G494V
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OPA1

NM_130837.3:p.G494V

Associated Papers

Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.

Xu X et al.

Molecular Genetics and Genomics : Mgg, 2021

Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.

Chao de la Barca JM et al.

Human Molecular Genetics, 2020

Mitochondrial dynamics in mammalian health and disease.

Liesa M et al.

Physiological Reviews, 2009

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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."