Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy von Abhimanyu S. Ahuja, Pavalan Selvam, Charitha Vadlamudi, Chopra, Hayley, Richter, John E., Macklin, Sarah K., Samreen, Ayesha, Helmi, Haytham, Mohammaad, Ahmed N., Hines, Stephanie, Davila, Maria C., Paldeep S. Atwal, Caulfield, Thomas R.

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