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Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Journal Article published 22 Aug 2018 in Human Mutation volume 39 issue 10 on pages 1456 to 1467

Research funded by Science for Life Laboratory national sequencing projects grant | Karolinska Institutet | Stiftelsen Promobilia | Erik Rönnberg Foundation | Svenska Sällskapet för Medicinsk Forskning | Stockholms Läns Landsting (20150143) | Hjärnfonden | Kommunfullmäktige, Stockholms Stad | Sällskapet Barnvård | Vetenskapsrådet (2013-2603, 2017-02936) | Stiftelsen Frimurare Barnhuset i Stockholm

Authors: Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Claudia M.B. Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, Ulrika Voss, Gen Nishimura, Bo Klintberg, Ann Nordgren, Daniel Nilsson, Giedre Grigelioniene, Anna Lindstrand