A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

por Ree, Rasmus, Geithus, Anni Sofie, Tørring, Pernille Mathiesen, Sørensen, Kristina Pilekær, Damkjær, Mads, Lynch, Sally Ann, Arnesen, Thomas
Publicado 2019