학술논문
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Document Type
Article
Author
Reurink, J.; Garanto, A.; Haer-Wigman, L.; Aben, M.; Astuti, G.D.N.; Corominas Galbany, J.; van Zelst-Stams, W.A.G.; de Bruijn, S.E.; Gilissen, C.; Vissers, L.E.L.M.; Cremers, F.P.M.; Kremer, H.; Roosing, S.; Smits, J.J.; Li, C.H.Z.; Hoyng, C.B.; van Wijk, E.; Weisschuh, N.; Kohl, S.; Wissinger, B.; Dockery, A.; Farrar, G.J.; van den Born, L.I.; Fajardy, I.; Ben-Yosef, T.; Pfiffner, F.K.; Berger, W.; Weener, M.E.; Dudakova, L.; Liskova, P.; Sharon, D.; Salameh, M.; Offenheim, A.; Heon, E.; Girotto, G.; Gasparini, P.; Morgan, A.; Bergen, A.A.; ten Brink, J.B.; van Schooneveld, M.J.; Klaver, C.C.W.; Phan, M.; Thiadens, A.A.H.J.; Tranebjærg, L.; Rendtorff, N.D.; Vermeer, S.; Pennings, R.J.E.; Oostrik, J.; Kroes, H.Y.; Verheij, J.B.G.M.
Source
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 13 April 2023, 4(2))
Subject
Language
English
ISSN
26662477