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A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

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Description scientific journal article
Author/s

author: Eleonora Di Gregorio  Filippo Tempia  Orsetta Zuffardi  Federico T Bianchi  Alexandra Durr  Sylvie Forlani  Giovanni Stevanin  Cecilia Marelli  Alfonso Schiavi  Daniela Lacerenza  Natascia Ventura  Ferdinando Di Cunto  Saverio Francesco Retta  Jamel Chelly  Alfredo Brusco  Alessandro Calcia 

Publication date August 1, 2013
Language English
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