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The Recurrent P.ser470phe Gain-of-function Variant in DCAF15 Leads to Cornelia De Lange Syndrome by Targeting SMC3 for Aberrant Ubiquitination

Sahar Da'as,Frederic Ebstein,Constance Wells, Aymeric Masson, Julien Paccaud, Waseem Hassan,Sixto Garcia-Minaur, Emi Rikeros Orozco,Elena Mansilla, Mamen Sanchez-Gomez,Miranda Splitt,Ruth Richardson,Florent Fuchs,Yannis Duffourd,Raissa Relator,Elke Krueger,Christophe Philippe,Laurence Faivre,Christel Thauvin-Robinet,Bekim Sadikovic,Maria Palomares-Bralo,Khalid Fakhro,Antonio Vitobello

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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