Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
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| Description | scientific article |
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author: Isabelle Desguerre Tania Attié-Bitach Sophie Thomas Valérie Serre Vincent Cantagrel Tamara Caspary Pascale de Lonlay Joseph G Gleeson Stanislas Lyonnet Arnold Munnich Michel Vekemans Nathalie Boddaert Nadia Elkhartoufi |
| Publication date | August 20, 2014 |
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