Cite

    Ahuja, A. S., Selvam, P., Vadlamudi, C., Chopra, H., Richter, J. E., Macklin, S. K., Samreen, A., Helmi, H., Mohammaad, A. N., Hines, S., Davila, M. C., Atwal, P. S., & Caulfield, T. R. (2020). 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, 41, 563–569. http://access.bl.uk/ark:/81055/vdc_100114040867.0x000023