@misc{indiciaefff28d88c8ee, title = {MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL}, author = {Parenti, I. and Diab, F. and Ruiz Gil, S. and Mulugeta, E. and Casa, V. and Berutti, R. and Brouwer, R. W. W. and Dupe, V. and Eckhold, J. and Graf, E. and Puisac, B. and Ramos, F. and Schwarzmayr, T. and van Staveren, T. and van IJcken, W. F. J. and Strom, T. M. and Pie, J. and Watrin, E. and Kaiser, F. J. and Wendt, K. S.}, year = {2018}, doi = {10.1101/477752}, url = {https://www.biorxiv.org/content/10.1101/477752v1}, note = {Source identifier: 10.1101/477752} }