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Browsing by Author Puente, Diana

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2014Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndromeBárcena Fernández, Clea; Quesada Fernández, Víctor; Sandre-Giovannoli, Annachiara de; Puente, Diana; Fernández Toral, Joaquín; Velasco Cotarelo, María Gloria; López Otín, Carlos
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