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
Ophthalmic Genetics | September 17, 2020 | Volume: 41 | Issue: 6 | Pages: 563-569
10.1080/13816810.2020.1814344
| PMID 32940104