De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics
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author: Benjamín Rodríguez-Santiago, Christian Gilissen, Joris A Veltman, Alexander Hoischen, Anita Rauch, Han G. Brunner, Ruth Newbury-Ecob, Lisenka Vissers, Bregje W van Bon, Judith A Goodship, Bert B A de Vries, Dagmar Wieczorek
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