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, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C.W.; Tranebjærg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J.E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D.N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; van Zelst-Stams, Wendy A.G.; Thiadens, Alberta A.H.J.; Verheij, Joke B.G.M.; van Schooneveld, Mary J.; de Bruijn, Suzanne E.; Li, Catherina H.Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E.L.M.; Cremers, Frans P.M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne
Source
In Human Genetics and Genomics Advances January 2023
Subject
Language
ISSN
2666-2477