Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.G4ins2
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OPA3

NM_025136.4:p.G4ins2

Associated Papers

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

Sergouniotis PI et al.

Neurogenetics, 2015

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

Lam C et al.

Molecular Genetics and Metabolism Reports, 2014

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

Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.

Bagli E et al.

In Vivo (athens, Greece), 0

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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."