Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

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Authors: Miroslav P Milev, Claudio Graziano, Daniela Karall, Willemijn F E Kuper, Noraldin Al-Deri, Duccio Maria Cordelli, Tobias B Haack, Katharina Danhauser, Arcangela Iuso, Flavia Palombo, Tommaso Pippucci, Holger Prokisch, Djenann Saint-Dic, Marco Seri, Daniela Stanga, Giovanna Cenacchi, Koen L I van Gassen, Johannes Zschocke, Christine Fauth, Johannes A Mayr, Michael Sacher, Peter M van Hasselt

Journal title: Journal of Medical Genetics

Journal publisher: British Medical Association

Published year: 2018

Published pages: jmedgenet-2018-105441

DOI identifier: 10.1136/jmedgenet-2018-105441

ISSN: 0022-2593