Biallelic Loss-of-function Variants of ZFTRAF1 Cause Neurodevelopmental Disorder with Microcephaly and Hypotonia
Maria Asif,Arwa Ishaq A. Khayyat,Salem Alawbathani,Uzma Abdullah,Anne Sanner,Theodoros Georgomanolis, Judith Haasters,Kerstin Becker,Birgit Budde,Christian Becker,Holger Thiele,Shahid M. Baig,Maria Isidoro-Garcia,Dominic Winter,Hans -Martin Pogoda,Sajjad Muhammad,Matthias Hammerschmidt,Florian Kraft,Ingo Kurth, Hilario Gomez Martin,Matias Wagner,Peter Nuernberg,Muhammad Sajid Hussain GENETICS IN MEDICINE（2024）
关键词
Autophagy,CYHR1,mRNA processing,Neurodevelopmental disorders,ZFTRAF1
AI 理解论文
溯源树
样例
