De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
✍ Scribed by Hoischen, Alexander; van Bon, Bregje W M; Rodríguez-Santiago, Benjamín; Gilissen, Christian; Vissers, Lisenka E L M; de Vries, Petra; Janssen, Irene; van Lier, Bart; Hastings, Rob; Smithson, Sarah F; Newbury-Ecob, Ruth; Kjaergaard, Susanne; Goodship, Judith; McGowan, Ruth; Bartholdi, Deborah; Rauch, Anita; Peippo, Maarit; Cobben, Jan M; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Veltman, Joris A; Brunner, Han G; de Vries, Bert B B A
- Book ID
- 118228224
- Publisher
- Nature Publishing Group
- Year
- 2011
- Tongue
- English
- Weight
- 394 KB
- Volume
- 43
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/ng.868
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