Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.Q61*
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OPA1

NM_130837.3:p.Q61*

Associated Papers

Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations.

Ito Y et al.

Investigative Ophthalmology & Visual Science, 2007

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

Alavi MV et al.

Brain : a Journal of Neurology, 2007

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

Nakamura M et al.

Ophthalmology, 2006

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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."