Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.L105V
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OPA1

NM_130837.3:p.L105V

Associated Papers

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

Grau T et al.

Journal of Medical Genetics, 2013

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."