A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

被引：0
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作者：
Marija Kojic
Nour E. H. Abbassi
Ting-Yu Lin
Alun Jones
Emma L. Wakeling
Emma Clement
Vasiliki Nakou
Matthew Singleton
Dominika Dobosz
Marios Kaliakatsos
Sebastian Glatt
Brandon J. Wainwright
机构：
[1] The University of Queensland,Frazer Institute
[2] Jagiellonian University,Malopolska Centre of Biotechnology
[3] Medical University of Warsaw,Postgraduate School of Molecular Medicine
[4] The University of Queensland,Institute for Molecular Bioscience
[5] Great Ormond Street Hospital for Children NHS Foundation Trust,North East Thames Regional Genetic Service
[6] Great Ormond Street Hospital for Children NHS Foundation Trust/ University College London,Paediatric Neurology
来源：
Journal of Human Genetics | 2023年 / 68卷
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页码：445 / 453
页数：8
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