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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

By Clea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, Diana A Puente, Joaquín Fernández-Toral, Sabine Sigaudy, Anwar Baban, Nicolas Lévy, Gloria Velasco and Carlos López-Otín
Publisher: Springer Nature
Year: 2014
DOI identifier: 10.1186/1471-2350-15-51
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Provided by: MUCC (Crossref)
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