Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.D470G
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OPA1

NM_015560.3:p.D470G

Associated Papers

Retinal dysfunction characterizes subtypes of dominant optic atrophy.

Cascavilla ML et al.

Acta Ophthalmologica, 2018

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

Rocca MA et al.

Journal of Neurology, 2015

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.

Barboni P et al.

American Journal of Ophthalmology, 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."