Long-read technologies identify a hidden inverted duplication in a family with choroideremia

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Authors: Zeinab Fadaie; Kornelia Neveling; Tuomo Mantere; Ronny Derks; Lonneke Haer-Wigman; Amber den Ouden; Michael Kwint; Luke O’Gorman; Dyon Valkenburg; Carel B. Hoyng; Christian Gilissen; Lisenka E.L.M. Vissers; Marcel R. Nelen; Frans P.M. Cremers; Alexander Hoischen; Susanne Roosing

Journal title: HGG Advances, 2, 1 - 11

Journal number: 1

Journal publisher: Science direct

Published year: 2022

DOI identifier: 10.1016/j.xhgg.2021.100046