Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
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Aoki Y, et al. Among authors: funayama r.
Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20.
Am J Hum Genet. 2013.
PMID: 23791108
Free PMC article.