Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia (Q37378038)

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scientific article published on 03 October 2016
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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
scientific article published on 03 October 2016

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    Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia (English)
    Hélène Jagline
    Ekaterina Ivanova
    Stéphane Schmucker
    Nathalie Drouot
    Jill Clayton-Smith
    Bertrand Isidor
    Ulrike Walther Louvier
    Jenny C Taylor
    Yoann Saillour
    Nicolas Lebrun
    Tristan Stemmelen
    Giuseppe Muraca
    Benjamin Saintpierre
    Adrienne Elmorjani
    Deciphering Developmental Disorders study
    Nathalie Bednarek Weirauch
    Ratna Tripathy
    Cherif Beldjord
    Patrick Nischké
    Jean-François Deleuze
    Izabela Sumara
    Maria-Victoria Hinckelmann

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