Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.S107_Y113del0
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OPA1

NM_130837.3:p.S107_Y113del0

Associated Papers

Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III.

Powell KA et al.

Investigative Ophthalmology & Visual Science, 2011

A missense mutation in the murine Opa3 gene models human Costeff syndrome.

Davies VJ et al.

Brain : a Journal of Neurology, 2008

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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."