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1 Ergebnisse
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Whole genome sequencing for USH2A-associated disease reveal..:
Reurink, Janine
;
Weisschuh, Nicole
;
Garanto, Alejandro
...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100181 , 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=cr-10.1016_j.xhgg.2023.100181&Exemplar=1&LAN=DE A1 Reurink, Janine A1 Weisschuh, Nicole A1 Garanto, Alejandro A1 Dockery, Adrian A1 van den Born, L. Ingeborgh A1 Fajardy, Isabelle A1 Haer-Wigman, Lonneke A1 Kohl, Susanne A1 Wissinger, Bernd A1 Farrar, G. Jane A1 Ben-Yosef, Tamar A1 Pfiffner, Fatma Kivrak A1 Berger, Wolfgang A1 Weener, Marianna E. A1 Dudakova, Lubica A1 Liskova, Petra A1 Sharon, Dror A1 Salameh, Manar A1 Offenheim, Ashley A1 Heon, Elise A1 Girotto, Giorgia A1 Gasparini, Paolo A1 Morgan, Anna A1 Bergen, Arthur A. A1 ten Brink, Jacoline B. A1 Klaver, Caroline C.W. A1 Tranebjærg, Lisbeth A1 Rendtorff, Nanna D. A1 Vermeer, Sascha A1 Smits, Jeroen J. PB Elsevier BV YR 2023 SN 2666-2477 JF Human Genetics and Genomics Advances VO 4 IS 2 SP 100181 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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