Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function

Faith C.J. Davies, Jilly E. Hope, Fiona McLachlan, Grant F. Marshall, Laura Kaminioti-Dumont, Vesa Qarkaxhija, Francis Nunez, Owen Dando, Colin Smith, Emma Wood, Josephine MacDonald, Oliver Hardt, Catherine M. Abbott

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Biochemistry, Genetics and Molecular Biology