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Rare EIF4A2 Variants Are Associated with a Neurodevelopmental Disorder Characterized by Intellectual Disability, Hypotonia, and Epilepsy

Maimuna S. Paul,Anna R. Duncan,Casie A. Genetti,Hongling Pan,Adam Jackson,Patricia E. Grant,Jiahai Shi,Michele Pinelli,Nicola Brunetti-Pierri,Alexandra Garza-Flores,Dave Shahani,Russell P. Saneto,Giuseppe Zampino,Chiara Leoni,Emanuele Agolini,Antonio Novelli,Ulrike Bluemlein,Tobias B. Haack,Wolfram Heinritz,Eva Matzker,Bader Alhaddad,Rami Abou Jamra,Tobias Bartolomaeus,Saber AlHamdan,Raphael Carapito,Bertrand Isidor,Seiamak Bahram,Alyssa Ritter,Kosuke Izumi,Ben Pode Shakked,Ortal Barel,Bruria Ben Zeev,Amber Begtrup,Deanna Alexis Carere,Sureni Mullegama,Timothy Blake Palculict,Daniel G. Calame, Katharina Schwan,Alicia R. P. Aycinena,Rasa Traberg,Sofia Douzgou,Harrison Pirt,Naila Ismayilova,Siddharth Banka,Hsiao-Tuan Chao,Pankaj B. Agrawal

The American Journal of Human Genetics（2022）

引用 11|浏览93
关键词
neurodevelopmental disorder,DEAD-box protein,transcription factor,epilepsy,Drosophila
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