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From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

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Description scientific article published on 21 October 2015
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author: Palma Finelli  Milena Crippa  Lidia Larizza  Tommaso Pippucci  Maria Teresa Bonati  Laura Mazzanti  Donatella Milani 

Publication date October 21, 2015
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