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Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
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.
Further evidence of the importance of RIT1 in Noonan syndrome.
Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC.
Bertola DR, et al.
Am J Med Genet A. 2014 Nov;164A(11):2952-7. doi: 10.1002/ajmg.a.36722. Epub 2014 Aug 13.
Am J Med Genet A. 2014.
PMID: 25124994
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