Clinical, Genetic and Molecular Delineation of KPTNrelated Disorder in Humans and Mice Identifies Mtor Inhibition As a Candidate Therapeutic Approach
Lettie Rawlins, Maria Levitin,Philip Iffland,Sanchez-Andrade Gabriela,James Tonks,James Fasham,Stephan Collins,Joseph Leslie,Stephen Sawiak,Conny Van Ravenswaaij-Arts,Caleb Bupp,Sarina Kant,Olivia Wenger,Ethan Scott,Helen Stewart,Esther Nibbeling,Eva Schwaibold,Andrew Shuen, Andrea Seeley,Sabine Rudnik,Adila Al-Kindi, Andreas Hahn,Almundher Al-Maawali,Saskia Biskup,Inger-Lise Mero,Martin Heier,Johanna Herkert,Thorkild Terkelsen,Tobias Haack,Kwame Anyane-Yeboa, Heather Rocha,Logan Jory,Ian Ellis,Michael Wright,Pradeep Vasudevan,John Schreiber,Gaurav Harlalka,Christopher Lelliott,Binnaz Yalcin,Matthew Hurles,Darren Logan,Peter Crino,Sebastian Gerety,Andrew Crosby,Emma Baple EUROPEAN JOURNAL OF HUMAN GENETICS（2024）
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