Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE; Araki T; Swanson KD; Montgomery KT; Schiripo TA; Joshi VA; Li L; Yassin Y; Tamburino AM; Neel BG; Kucherlapati RS; Nature Genetics, 2007, vol. 39, issue 1, p 70, ISSN 10614036. ISBN 10614036.

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