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

✍ Scribed by Bárcena, Clea; Quesada, Víctor; De Sandre-Giovannoli, Annachiara; Puente, Diana A; Fernández-Toral, Joaquín; Sigaudy, Sabine; Baban, Anwar; Lévy, Nicolas; Velasco, Gloria; López-Otín, Carlos

Book ID: 125398577
Publisher: BioMed Central
Year: 2014
Tongue: English
Weight: 548 KB
Volume: 15
Category: Article
ISSN: 1471-2350
DOI: 10.1186/1471-2350-15-51

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