A homozygous founder mutation in TRAPPB associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features
I. Marin Valencia, G. Novarino, A. Johansen, B. Rosti, M. Issa, D. Musaev, G. Bhat, E. Scott, J. Silhavy, V. Stanley, R. Rosti, J. Gleeson, F. Imam, M. Zaki, J. Gleeson, Journal of Medical Genetics 55 (2018) 48–54.
LibreCat: https://research-explorer.ista.ac.at/record/691
DOI: 10.1136/jmedgenet-2017-104627
WoS: 000418199800007
PMID: 28626029