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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| Missing/wrong data? | Edit Wikidata item |