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Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

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Description scientific article
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author: Barbara Mandriani  Bartolomeo Augello  Pasquelena De Nittis  Gioacchino Scarano  Lucia Micale  Carmela Fusco  Maria Teresa Pellico  Laura Mazzanti  Giuseppe Merla 

Publication date April 9, 2014
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