Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomaliesStijn Van de Sompele,Caroline Van Cauwenbergh,Marjolein Carron,Alfredo Duenas Rey,Frauke Coppieters,Toon Rosseel,Hong Tran,Robrecht Cannoodt,Thalia Van Laethem,Brecht Guillemyn,Dimitri Roels, Helena Flipts,Erik Fransen,Marleen Praet,Thomas Langmann,Katharina Dannhausen, Robinato Elisa,Lan Yu, Frances High,Karin Dahan, Madeleine Fanemel,Ketil Heimdal,Flavio Faletra, Wendy Chung,Kris Vleminckx,Andrew Webster,Bart Leroy,Elfride De BaereEUROPEAN JOURNAL OF HUMAN GENETICS（2023）引用 0|浏览16暂无评分AI 理解论文溯源树样例生成溯源树，研究论文发展脉络Chat Paper正在生成论文摘要
