Repositorio Institucional de Documentos

@article{Parenti:89914,
      author        = "Parenti, I. and Diab, F. and Gil, S.R. and Mulugeta, E.
                       and Casa, V. and Berutti, R. and Brouwer, R.W.W. and Dupé,
                       V. and Eckhold, J. and Graf, E. and Puisac, B. and Ramos,
                       F. and Schwarzmayr, T. and Gines, M.M. and van Staveren, T.
                       and van IJcken, W.F.J. and Strom, T.M. and Pié, J. and
                       Watrin, E. and Kaiser, F.J. and Wendt, K.S.",
      title         = "{MAU2 and NIPBL Variants Impair the Heterodimerization of
                       the Cohesin Loader Subunits and Cause Cornelia de Lange
                       Syndrome}",
      year          = "2020",
}