Highly Clustered De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Specific Abnormal C Terminal Part and Cause a Severe Form of Intellectual Disability with Autistic FeaturesFrancesca Mattioli,Gaelle Hayot,Nathalie Drouot,Bertrand Isidor,Jérémie Courraud,Frederic Tran Mau-Them,Chantal Sellier,Maria-Victoria Hinckelmann,Alica Goldman,Aida Telegrafi, Alicia Boughton,Candace Gamble,Sebastien Moutton,Angélique Quartier,Nolwenn Jean,Paul Van Ness,Sarah Grotto,Sophie Nambot,Ganka Douglas, Yue Cindy Si,Jamel Chelly,Zohra Shad,Elisabeth Kaplan,Richard Dineen,Christelle Golzio, Nicolas Charlet,Mandel Jean-Louis,Piton Améliecrossref(2019)引用 0|浏览20关键词Alternative SplicingAI 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