Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.V933I
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OPA1

NM_015560.3:p.V933I

Associated Papers

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

Weisschuh N et al.

Plos One, 2021

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

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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."