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Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3.
Nat Genet. 2007.
PMID: 17143285
Clinical and molecular characterization of 40 patients with Noonan syndrome.
Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC.
Ferrero GB, et al.
Eur J Med Genet. 2008 Nov-Dec;51(6):566-72. doi: 10.1016/j.ejmg.2008.06.011. Epub 2008 Jul 17.
Eur J Med Genet. 2008.
PMID: 18678287
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