Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.R38R
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OPA1

NM_130837.3:p.R38R

Associated Papers

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.

Majander A et al.

Investigative Ophthalmology & Visual Science, 2017

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.

Van Bergen NJ et al.

Plos One, 2011

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Cohn AC et al.

American Journal of Ophthalmology, 2007

eOPA1: an online database for OPA1 mutations.

Ferré M et al.

Human Mutation, 2005

Drug-induced optic neuropathy-TB or not TB.

Pradhan M et al.

Survey of Ophthalmology, 0

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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."