A Pleiotropic Recurrent Dominant ITPR3 Variant Causes a Complex Multisystemic Disease
Anne Molitor,Alexandre Lederle,Mirjana Radosavljevic,Vinay Sapuru, Megan E. Zavorka Thomas, Jianying Yang, Mahsa Shirin, Virginie Collin-Bund,Katerina Jerabkova-Roda,Zhichao Miao, Alice Bernard,Veronique Rolli, Pierre Grenot,Carla Noemi Castro,Michelle Rosenzwajg, Elyssa G. Lewis,Richard Person, Uxia-Saraiva Esperon-Moldes,Milja Kaare, Pekka T. Nokelainen,Nurit Assia Batzir, Gal Zaks Hoffer,Nicodeme Paul,Tristan Stemmelen,Lydie Naegely,Antoine Hanauer,Sabrina Bibi-Triki, Sarah Gruen,Sophie Jung,Ignacio Busnelli,Kornelia Tripolszki,Ruslan Al-Ali,Natalia Ordonez,Peter Bauer,Eunkyung Song,Kristin Zajo,Santiago Partida-Sanchez,Frank Robledo-Avila,Attila Kumanovics,Yoram Louzoun,Aurelie Hirschler,Angelique Pichot,Ori Toker, Cesar Andres Munoz Mejia,Nima Parvaneh,Esther Knapp,Joseph H. Hersh,Heather Kenney,Ottavia M. Delmonte,Luigi D. Notarangelo,Jacky G. Goetz,Samir B. Kahwash,Christine Carapito,Rajinder P. S. Bajwa,Caroline Thomas,Stephan Ehl,Bertrand Isidor,Raphael Carapito,Roshini S. Abraham,Richard K. Hite,Nufar Marcus,Aida Bertoli-Avella,Seiamak Bahram
SCIENCE ADVANCES（2024）
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