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Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Marialetizia Motta,Miray Fidan,Emanuele Bellacchio,Francesca Pantaleoni, Konstantin Schneider-Heieck,Simona Coppola,Guntram Borck,Leonardo Salviati,Martin Zenker,Ion C Cirstea,Marco Tartaglia

HUMAN MOLECULAR GENETICS（2019）

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关键词
mutations,syndrome-causing,substrate-recognition,ras-mapk
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