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    The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically i... by Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic

    Published 2020
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