Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.R290del1
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OPA1

NM_130837.3:p.R290del1

Associated Papers

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

Roubertie A et al.

Journal of the Neurological Sciences, 2015

First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.

Kamakari S et al.

Molecular Vision, 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."