Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (vol 20, pg 271, 2012)
Diana Braunholz,Melanie Hullings,María Concepción Gil-Rodríguez,Christopher T. Fincher,Mark B. Mallozzi,Elizabeth Loy,Melanie Albrecht,Maninder Kaur,Janusz Limon,Abhinav Rampuria,Dinah Clark,Antonie D. Kline,Andreas Dalski,Juliane Eckhold,Andreas Tzschach,Raoul C. M. Hennekam,Gabriele Gillessen-Kaesbach,Jolanta Wierzba,Ian D. Krantz,Matthew A. Deardorff,Frank J. Kaiser European Journal of Human Genetics(2012)
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