Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.M1V
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OPA3

NM_025136.4:p.M1V

Associated Papers

Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.

Chen J et al.

Investigative Ophthalmology & Visual Science, 2014

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."