Gain-of-function mutations in RIT1 cause noonan syndrome, a RAS/MAPK pathway syndrome

Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando, Tadataka Hoshika, Christopher Barnett, Hirofumi Ohashi, Hiroshi Kawame, Tomonobu Hasegawa, Takahiro Okutani, Tatsuo Nagashima, Satoshi Hasegawa, Ryo Funayama, Takeshi NagashimaKeiko Nakayama, Shin Ichi Inoue, Yusuke Watanabe, Toshihiko Ogura, Yoichi Matsubara

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175 Citations (Scopus)

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Medicine & Life Sciences