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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 features

机译：神经元剪接因子Nova2中高度聚类的de novo arameshift变体导致特定的异常c终端部分，并导致自闭症特征严重的智力残疾

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Francesca 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 Amélie;
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1. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder [J] . Mattioli Francesca, Hayot Gaelle, Drouot Nathalie, The American Journal of Human Genetics . 2020,第4期

机译：神经元剪接因子Nova2中的De Novo Frameshift变体导致常见的C末端延伸并导致严重的神经发育障碍
2. De novo De novo missense variants in MEIS2 MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features [J] . Douglas Ganka, Cho Megan T., Telegrafi Aida, American journal of medical genetics, Part A . 2018,第9期

机译：梅斯2梅斯2的De Novo de Novo畸形变种术术重息心脏和口感异常，发育延迟，智力残疾和疑难解情特征
3. Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly [J] . Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Mohammed M. Jan, Saudi Journal of Biological Sciences . 2020,第11期

机译：下一代测序揭示了PUS7中的新型纯合架和AASS基因的接头受体变体，导致智力残疾，发育延迟，疑风特征和微术
4. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder [O] . Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, 2020

机译：神经元剪接因子Nova2中的De Novo Frameshift变体导致常见的C末端延伸并导致严重的神经发育障碍
5. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder [O] . Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, 2020

机译：神经元剪接因子Nova2中的De Novo Frameshift变体导致常见的C末端延伸并导致严重的神经发育障碍

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 features

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