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1
Whole genome sequencing for USH2A-associated disease reveal..:
Janine Reurink
;
Nicole Weisschuh
;
Alejandro Garanto
...
http://www.sciencedirect.com/science/article/pii/S2666247723000131. , 2023
Link:
https://doi.org/10.1016/j.xhgg.2023.100181
RT Journal T1
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:3a1d6bbbc0b84a3f9409fc1710e756ce&Exemplar=1&LAN=DE A1 Janine Reurink A1 Nicole Weisschuh A1 Alejandro Garanto A1 Adrian Dockery A1 L. Ingeborgh van den Born A1 Isabelle Fajardy A1 Lonneke Haer-Wigman A1 Susanne Kohl A1 Bernd Wissinger A1 G. Jane Farrar A1 Tamar Ben-Yosef A1 Fatma Kivrak Pfiffner A1 Wolfgang Berger A1 Marianna E. Weener A1 Lubica Dudakova A1 Petra Liskova A1 Dror Sharon A1 Manar Salameh A1 Ashley Offenheim A1 Elise Heon A1 Giorgia Girotto A1 Paolo Gasparini A1 Anna Morgan A1 Arthur A. Bergen A1 Jacoline B. ten Brink A1 Caroline C.W. Klaver A1 Lisbeth Tranebjærg A1 Nanna D. Rendtorff A1 Sascha Vermeer A1 Jeroen J. Smits A1 Ronald J.E. Pennings A1 Marco Aben A1 Jaap Oostrik A1 Galuh D.N. Astuti A1 Jordi Corominas Galbany A1 Hester Y. Kroes A1 Milan Phan A1 Wendy A.G. van Zelst-Stams A1 Alberta A.H.J. Thiadens A1 Joke B.G.M. Verheij A1 Mary J. van Schooneveld A1 Suzanne E. de Bruijn A1 Catherina H.Z. Li A1 Carel B. Hoyng A1 Christian Gilissen A1 Lisenka E.L.M. Vissers A1 Frans P.M. Cremers A1 Hannie Kremer A1 Erwin van Wijk A1 Susanne Roosing PB Elsevier YR 2023 K1 USH2A K1 Usher syndrome K1 retinitis pigmentosa K1 usherin K1 whole genome sequencing K1 minigene splice assay K1 Genetics K1 QH426-470 JF http://www.sciencedirect.com/science/article/pii/S2666247723000131 LK http://dx.doi.org/https://doi.org/10.1016/j.xhgg.2023.100181 DO https://doi.org/10.1016/j.xhgg.2023.100181 SF ELIB - SuUB Bremen
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