A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease
多效性复发性显性 ITPR3 变异导致复杂的多系统疾病
期刊:Science Advances
影响因子:11.7
doi:10.1126/sciadv.ado5545
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, Véronique Rolli, Pierre Grenot, Carla Noemi Castro, Michelle Rosenzwajg, Elyssa G Lewis, Richard Pers