Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy by Pandit Bhaswati, Sarkozy Anna, Pennacchio Len A, Carta Claudio, Oishi Kimihiko, Martinelli Simone, Pogna Edgar A, Schackwitz Wendy, Ustaszewska Anna, Landstrom Andrew, Bos J Martijn, Ommen Steve R, Esposito Giorgia, Lepri Francesca, Faul Christian, Mundel Peter, López Siguero Juan P, Tenconi Romano, Selicorni Angelo, Rossi Cesare, Mazzanti Laura, Torrente Isabella, Marino Bruno, Digilio Maria C, Zampino Giuseppe, Ackerman Michael J, Dallapiccola Bruno, Tartaglia Marco, Gelb Bruce D in Nature genetics (2007).

[PMID: 17603483] PubMed

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