Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.G514E
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OPA1

NM_130837.3:p.G514E

Associated Papers

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

Almind GJ et al.

Bmc Medical Genetics, 2012

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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."