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    • Deepâ intronic variants in CNGB3 cause achromatopsia by pseudoexon activation 
      Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catalá‐mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou‐tzeli, Sofia; Matet, Alexandre; Martorell Sampol, Loreto; Meunier, Isabelle; Rudolph, Günther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsányi, Balázs; Wissinger, Bernd; Kohl, Susanne (Wiley Periodicals, Inc., 2020-01)
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