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Pathogenic Variants in SMARCA1 Cause an X-linked Neurodevelopmental Disorder Modulated by NURF Complex Composition.

David Picketts,Ghayda Mirzaa,Keqin Yan,Raissa Relator,Sara Timpano,Binnaz Yalcin,Stephan Collins,Alban Ziegler,Emily Pao,Nora Oyama,Elise Brischoux-Boucher,Juliette Piard,Kristin Monaghan,Maria Guillen Sacoto,William Dobyns,Kristen Park, Daniel Fernández-Mayoralas,Alberto Fernández-Jaén,Parul Jayakar,Alfredo Brusco,Vincenzo Antona,Elisa Giorgio,Malin Kvarnung,Bertrand Isidor,Solène Conrad,Benjamin Cogné,Wallid Deb, K E Stuurman,Katalin Sterbova,Noor Smal,Sarah Weckhuysen,Renske Oegema,Micheil Innes, Maeson Latsko,Tawfeg Ben-Omran,Rebecca Yeh,Michael Kruer,Somayeh Bakhtiari,Antigone Papavasiliou,Sébastien Moutton,Sophie Nambot,Sirisak Chanprasert,Sarah Paolucci, Kait Miller,Barbara Burton,Katherine Kim,Emily O'Heir,Zandre Bruwer,Kirsten Donald,Tjitske Kleefstra,Amy Goldstein,Brad Angle,Kelly Bontempo,Peter Miny,Pascal Joset,Florence Demurger,Emma Hobson,Lewis Pang,Lori Carpenter, Dong Li,Dominique Bonneau,Bekim Sadikovic

Research square（2023）

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关键词
SWI/SNF Complexes,Neurological Diseases
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