Deep-intronic Variants in CNGB3 Cause Achromatopsia by Pseudoexon ActivationNicole Weisschuh,Marc Sturm,Britta Baumann,Isabelle Audo,Carmen Ayuso,Beatrice Bocquet,Kari Branham,Brian P. Brooks,Jaume Catala-Mora,Roberto Giorda,John R. Heckenlively,Robert B. Hufnagel,Samuel G. Jacobson,Ulrich Kellner,Sofia Kitsiou-Tzeli,Alexandre Matet,Loreto Martorell Sampol,Isabelle Meunier,Gunther Rudolph,Dror Sharon,Katarina Stingl,Berthold Streubel,Balazs Varsanyi,Bernd Wissinger,Susanne KohlHUMAN MUTATION（2020）引用 28|浏览93关键词achromatopsia,CNGB3,deep intronic variant,pseudoexon,splicing defectAI 理解论文溯源树样例生成溯源树，研究论文发展脉络Chat Paper正在生成论文摘要
