Cohort analysis of new SPAST mutations in SPG4 patients and implementation of functional studies toidentify the pathogenic mechanism caused by splicing mutationsRosangela Ferese,Simona Scala, Federica Sammarone,Antonio Suppa,Rosa Campopiano,Francesco Asci,Alessandro Zampogna,Maria Antonietta Chiaravalloti, Annamaria Griguoli,Marianna Storto, Alessia Lombardi, Luana DiPilla,Milena Cannella,Alba Di Pardo,Emiliano Giardina,Stefania Zampatti,Mirco Fanelli,Stefano GambardellaEUROPEAN JOURNAL OF HUMAN GENETICS(2024)引用 0|浏览0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