Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

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Authors: Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M. Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani

Journal title: PLOS ONE

Journal number: 13/10

Journal publisher: Public Library of Science

Published year: 2018

Published pages: e0205298

DOI identifier: 10.1371/journal.pone.0205298

ISSN: 1932-6203