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Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation |
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| Authors: | Nicole Weisschuh Marc Sturm Britta Baumann Isabelle Audo Carmen Ayuso Beatrice Bocquet Kari Branham Brian P Brooks Jaume Catal‐Mora Roberto Giorda John R Heckenlively Robert B Hufnagel Samuel G Jacobson Ulrich Kellner Sofia Kitsiou‐Tzeli Alexandre Matet Loreto Martorell Sampol Isabelle Meunier Günther Rudolph Dror Sharon Katarina Stingl Berthold Streubel Balzs Varsnyi Bernd Wissinger Susanne Kohl |
| Institution: | Nicole Weisschuh,Marc Sturm,Britta Baumann,Isabelle Audo,Carmen Ayuso,Beatrice Bocquet,Kari Branham,Brian P. Brooks,Jaume Catalá‐Mora,Roberto Giorda,John R. Heckenlively,Robert B. Hufnagel,Samuel G. Jacobson,Ulrich Kellner,Sofia Kitsiou‐Tzeli,Alexandre Matet,Loreto Martorell Sampol,Isabelle Meunier,Günther Rudolph,Dror Sharon,Katarina Stingl,Berthold Streubel,Balázs Varsányi,Bernd Wissinger,Susanne Kohl |
| Abstract: | |
| Keywords: | achromatopsia CNGB3 deep intronic variant pseudoexon splicing defect |