Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.

Lara K Holtes, Di Chen, Siobhan Guilfoyle, Harriet O'Leary, Julio C Corral-Serrano, Erica G M Boonen, Lonneke Haer-Wigman, Sara E Nieuwenhuis, Rosellina Guarascio, Vasileios Toulis, Danilo Andrade de Jesus, Frans P M Cremers, Alberta A H J Thiadens, Michael E Cheetham, Suzanne E de Bruijn, Alison J Hardcastle, Susanne Roosing

DOI: 10.1167/iovs.67.10.1