Clustered Variants in the 5′ Coding Region of TRA2B Cause a Distinctive Neurodevelopmental Syndrome
Francis Ramond,Caroline Dalgliesh,Mona Grimmel,Oded Wechsberg,Annalisa Vetro,Renzo Guerrini,David FitzPatrick,Rebecca L. Poole,Marine Lebrun,Allan Bayat,Ute Grasshoff,Miriam Bertrand,Dennis Witt,Peter D. Turnpenny,Victor Faundes,Lorena Santa Maria,Carolina Mendoza Fuentes,Paulina Mabe,Shaun A. Hussain,Sureni V. Mullegama,Erin Torti,Barbara Oehl-Jaschkowitz,Lina Basel Salmon,Naama Orenstein,Noa Ruhrman Shahar,Ofir Hagari,Lily Bazak,Sabine Hoffjan,Carlos E. Prada,Tobias Haack,David J. Elliott GENETICS IN MEDICINE（2023）
Key words
Epilepsy,Infantile spasms,Intellectual disability,Molecular genetics,TRA2B
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