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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

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Description scientific article
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author: Geert Mortier  Zornitza Stark  Charlotte W Ockeloen  Katta Mohan Girisha  Dorien Schepers  Rick van Minkelen  Bart L Loeys  Michael Simpson 

Publication date April 16, 2014
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