| 1 | NS8, RIT1 |
| Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. | |
| Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. | |
| Am J Hum Genet 93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20. 2013 | |