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Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

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Description scientific article
Author/s

author: Ruxandra Bachmann-Gagescu  Stephan C Neuhauss  Zornitza Stark  Daniel Doherty  Allan E Stolarski  Christine R Isabella  Brian J O'Roak  Ian A Glass  Russell J. Ferland  Kiet Hua  Jay Shendure 

Publication date December 19, 2013
Language English
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