Citations 1
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, Abhimanyu S. , Selvam, Pavalan , Vadlamudi, Charitha , Chopra, Hayley, Richter, John E. , Macklin, Sarah , Samreen, Ayesha , Helmi, Haytham , Mohammaad, Ahmed N., Hines, Stephanie L., Davila, Maria C., Caulfield, Thomas R. , Hines, Stephanie, Caulfield, Thomas R , Samreen, Ayesha , Ahuja, Abhimanyu , Atwal, Paldeep S
Ophthalmic Genetics | September 17, 2020 | Volume: 41 | Issue: 6 | Pages: 563-569
