Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

Suzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, Lonneke Haer-Wigman, Luke O'Gorman, Frans P M Cremers, Ronald van Beek , Alexander Hoischen, Susanne Roosing, Kornelia Neveling

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Biochemistry, Genetics and Molecular Biology