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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
Diana Braunholz, Melanie Hullings, María Concepcion Gil-Rodríguez, Christopher T. Fincher, Mark B. Mallozzi, Elizabeth Loy, Melanie Albrecht, Maninder Kaur, Janusz Limon, Abhinav Rampuria, Dinah Clark, Antonie Kline, Juliane Eckhold, Andreas Tzschach, Raoul Hennekam, Gabriele Gillessen-Kaesbach, Jolanta Wierzba, Ian D. Krantz, Matthew A. Deardorff*, Frank J. Kaiser
*Corresponding author for this work
- Division of Genetics
- University of Pennsylvania
- Unit of Clinical Genetics and Functional Genomics
- University of Zaragoza
- Departments of Biology and Genetics
- Medical University of Gdańsk
- Harvey Institute for Human Genetics
- MPI Molekulare Genetik
- Department of Clinical Genetics Section of Medical Genomics
- University of Amsterdam
- Department of Endocrinology and General Nursery
15
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(Scopus)