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Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

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Description scientific article published on 7 June 2014
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author: Eirik Frengen  Asbjørn Holmgren  Madeleine Fannemel 

Publication date June 7, 2014
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