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

Kojic Marija
,
Abbassi Nour
,
Lin Ting-Yu
,
Jones Alun
,
Wakeling Emma L.
,
Clement Emma
,
Nakou Vasiliki
,
Singleton Matthew
,
Dobosz Dominika
,
Kaliakatsos Marios
,
Glatt Sebastian
,
Wainwright Brandon J.
Journal of Human Genetics,2023vol. 68,no. 7,p. 445-453
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