De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome (Q55671561)

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article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics
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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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    De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome (English)
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    Petra de Vries
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    Irene Janssen
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    Bart van Lier
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    Rob Hastings
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    Sarah F Smithson
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    Susanne Kjaergaard
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    Ruth McGowan
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    Deborah Bartholdi
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    Maarit Peippo
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    Jan M Cobben
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    Gabriele Gillessen-Kaesbach
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    Joris A Veltman
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    26 June 2011
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    43
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    8
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    729-31
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    729-731
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