Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.L48Splc
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OPA3

NM_025136.4:p.L48Splc

Associated Papers

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.

Gaier ED et al.

Ophthalmic Genetics, 2019

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Horga A et al.

Neurology. Genetics, 2019

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

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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."