Long-read technologies identify a hidden inverted duplication in a family with choroideremia
- Resource Type
- Article
- Authors
- Fadaie, Zeinab; Neveling, Kornelia; Mantere, Tuomo; Derks, Ronny; Haer-Wigman, Lonneke; den Ouden, Amber; Kwint, Michael; O’Gorman, Luke; Valkenburg, Dyon; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E.L.M.; Nelen, Marcel; Cremers, Frans P.M.; Hoischen, Alexander; Roosing, Susanne
- Source
- In Human Genetics and Genomics Advances 14 October 2021 2(4)
- Subject
- Language
- ISSN
- 2666-2477