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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

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Description scientific article published on 06 February 2013
Author/s

author: Andrea Poretti  Tania Attié-Bitach  Sophie Thomas  Graziella Uziel  Eugen Boltshauser  Stacey Gabriel  Joseph G Gleeson  Lorena Travaglini  Bruria Ben Zeev  Enza Maria Valente  Nadia Elkhartoufi  Jennifer L Silhavy  International JSRD Study Group  Miriam Iannicelli  Sabrina Signorini  Maha Zaki  Emily Spencer  Enrico Bertini  Elizabeth Nickerson 

Publication date February 6, 2013
Language English
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