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

Abhimanyu S. Ahuja, Pavalan Selvam, Charitha Vadlamudi, Hayley Chopra, John E. Richter, Sarah K. Macklin, Ayesha Samreen, Haytham Helmi, Ahmed N. Mohammaad, Stephanie Hines, Maria C. Davila, Paldeep S. Atwal, Thomas R. Caulfield

Research output: Contribution to journal › Article › peer-review

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