Title: A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype
Authors: 1.Kojic M, Abbassi NEH, Lin TY, Jones A, Wakeling EL, Clement E, Nakou V, Singleton M, Dobosz D, Kaliakatsos M, Glatt S and Wainwright BJ
Journal: Journal of Human Genetics
Publication type: article
DOI: 10.1038/s10038-023-01135-3