In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
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| Description | scientific article |
| Author/s |
author: Pierre Vabres Clarisse Baumann Catherine Boileau Jeanne Amiel Valérie Cormier-Daire Laurence Faivre Anne De Paepe Eloisa Arbustini Peter Robinson Julie De Backer Bert Callewaert Christophe Beroud Christel Thauvin-Robinet |
| Publication date | October 25, 2012 |
| Language | English |
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