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Journal: Int. J. Mol. Sci., 2014
Volume: 15
Number: 10350
Article:
Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome
Authors:
by
MarÃa E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Andreas Dalski, MarÃa C. Gil-RodrÃguez, Diana Braunholz, Carolina Baquero, MarÃa Hernández-Marcos, Juan C. De Karam, Milagros Ciero, Fernando Santos-Simarro, Pablo Lapunzina, Jolanta Wierzba, César H. Casale, Feliciano J. Ramos, Gabriele Gillessen-Kaesbach, Frank J. Kaiser and Juan Pié
Link:
https://www.mdpi.com/1422-0067/15/6/10350
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