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Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

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Description scientific article
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author: Filippo Beleggia  Shahida Moosa  Peter Nürnberg  Janine Altmüller  Bernd Wollnik 

Publication date October 18, 2016
Language English
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