Published in
American Association for the Advancement of Science, Science Advances, 20(7), 2021
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Pathogenic variants inSMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Journal article published in 2021 by
Dong Li 
,
Qin Wang,
Naihua N. Gong ,
Alina Kurolap ,
Hagit Baris Feldman ,
Nikolas Boy ,
Melanie Brugger ,
Katheryn Grand ,
Kirsty McWalter ,
Maria J. Guillen Sacoto ,
Emma Wakeling ,
Jane Hurst,
Michael E. March ,
Elizabeth J. Bhoj ,
Małgorzata J. M. Nowaczyk
and other authors.
,
Qin Wang,
Naihua N. Gong ,
Alina Kurolap ,
Hagit Baris Feldman ,
Nikolas Boy ,
Melanie Brugger ,
Katheryn Grand ,
Kirsty McWalter ,
Maria J. Guillen Sacoto ,
Emma Wakeling ,
Jane Hurst,
Michael E. March ,
Elizabeth J. Bhoj ,
Małgorzata J. M. Nowaczyk
and other authors.
This paper is made freely available by the publisher.
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Abstract
Exome sequencing andDrosophilamodeling revealed variants inSMARCA5as a novel cause of a neurodevelopmental disorder.