Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

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Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Author: Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catala-Mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou-Tzeli, Sofia; Matet, Alexandre; Sampol, Loreto Martorell; Meunier, Isabelle; Rudolph, Gunther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsanyi, Balazs; Wissinger, Bernd; Kohl, Susanne
Tübinger Autor(en):
Weisschuh, Nicole
Sturm, Marc
Baumann, Britta
Wissinger, Bernd
Kohl, Susanne
Štingl, Katarína
Published in: Human Mutation (2020), Bd. 41, H. 1, S. 255-264
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/humu.23920
ISSN: 1098-1004
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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