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PSMC3 Proteasome Subunit Variants Are Associated with Neurodevelopmental Delay and Type I Interferon Production

Frederic Ebstein,Sebastien Kuery,Victoria Most,Cory Rosenfelt,Marie-Pier Scott-Boyer,Geeske M. van Woerden,Thomas Besrard,Jonas Johannes Papendorf,Maja Studencka-Turski,Tianyun Wang,Tzung-Chien Hsieh,Richard Golnik,Dustin Baldridge,Cara Forster,Charlotte de Konink,Selina M. W. Teurlings,Virginie Vignard,Richard H. van Jaarsveld,Lesley Ades,Benjamin Cogne,Cyril Mignot,Wallid Deb,Marjolijn C. J. Jongmans,F. Sessions Cole,Marie-Jose H. van den Boogaard,Jennifer A. Wambach,Daniel J. Wegner,Sandra Yang,Vickie Hannig,Jennifer Ann Brault,Neda Zadeh,Bruce Bennetts,Boris Keren,Anne-Claire Gelineau, Zoee Powis,Meghan Towne,Kristine Bachman,Andrea Seeley,Anita E. Beck,Jennifer Morrison,Rachel Westman,Kelly Averill,Theresa Brunet,Judith Haasters,Melissa T. Carter,Matthew Osmond,Patricia G. Wheeler,Francesca Forzano,Shehla Mohammed,Yannis Trakadis,Andrea Accogli,Rachel Harrison,Yiran Guo,Hakon Hakonarson,Sophie Rondeau,Genevieve Baujat,Giulia Barcia,Rene Guenther Feichtinger,Johannes Adalbert Mayr,Martin Preisel,Frederic Laumonnier,Tilmann Kallinich,Alexej Knaus,Bertrand Isidor,Peter Krawitz,Uwe Voelker,Elke Hammer,Arnaud Droit,Evan E. Eichler,Ype Elgersma,Peter W. Hildebrand,Francois Bolduc,Elke Krueger,Stephane Bezieau

Science Translational Medicine（2023）

Cited 12|Views92
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