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Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

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Main Authors: Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2012
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283190/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.209
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