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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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author: Ruxandra Bachmann-Gagescu  Stephan C Neuhauss  Zornitza Stark  Daniel Doherty  Allan E Stolarski  Russell J. Ferland  Kiet Hua  Jay Shendure 

Publication date February 2014
Language English
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