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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.
Ahuja AS, Selvam P, Vadlamudi C, Chopra H, Richter JE Jr, Macklin SK, Samreen A, Helmi H, Mohammaad AN, Hines S, Davila MC, Atwal PS, Caulfield TR. Ahuja AS, et al. Among authors: samreen a. Ophthalmic Genet. 2020 Dec;41(6):563-569. doi: 10.1080/13816810.2020.1814344. Epub 2020 Sep 17. Ophthalmic Genet. 2020. PMID: 32940104