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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen1, Bregje W M van Bon, Benjamín Rodríguez-Santiago

  • 1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Nature Genetics
|June 28, 2011
PubMed

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