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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

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Description scientific article
Author/s

author: Miriam Schmidts  Gregory J. Pazour  Matthew Hurles  Mirjana Brankovic-Magic  Peter J Scambler  Albane A Bizet  Eamonn R Maher  Nataliya Di Donato  Sophie Saunier 

Publication date May 1, 2013
Language English
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