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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Marco Tartaglia, Len A Pennacchio, Chen Zhao, Kamlesh K Yadav, Valentina Fodale, Anna Sarkozy, Bhaswati Pandit, Kimihiko Oishi, Simone Martinelli, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, James Bristow, Claudio Carta, Francesca Lepri, Cinzia Neri, Isabella Vasta, Kate Gibson, Cynthia J Curry, Juan Pedro L√≥pez Siguero, Maria Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Dafna Bar-Sagi, Bruce D Gelb
Nat Genet 2007; 39(1):75-79
ICID: 841115
IC™ Value: 34.18
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