Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction-Reference-Cited by-同舟云学术

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Published:2023-04 Issue:2 Volume:4 Page:100181
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Reurink Janine^ORCID,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.,Corominas Galbany Jordi,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^ORCID,Roosing Susanne

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference42 articles.

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