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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

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Description scientific article published on 22 July 2020
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author: Amélie Piton  Usha Kini  Chiara Pantaleoni  Helen Firth  Nicola Brunetti-Pierri  Sara El Kennani  Raoul Hennekam  Evan E. Eichler  Ange-Line Bruel 

Publication date July 22, 2020
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