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Coffee B, Muralidharan K, Highsmith WE Jr, Lapunzina P, Warren ST. Genet Med. 2006 Oct;8(10):628-34
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Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement
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DetallesMolecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
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