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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
Schepers, Dorien, Doyle, Alexander J, Oswald, Gretchen, Sparks, Elizabeth, Myers, Loretha, Willems, Patrick J, Mansour, Sahar, Simpson, Michael A, Frysira, Helena, Maat-Kievit, Anneke, Van Minkelen, RVolume:
23
Langue:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2014.61
Date:
February, 2015
Fichier:
PDF, 741 KB
english, 2015