Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.E268G
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OPA1

NM_130837.3:p.E268G

Associated Papers

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant.

Alter S et al.

Genes, 2022

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

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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."