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Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

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Description scientific article
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author: Kim P van der Donk  Yvonne M C Hendriks  Han G. Brunner  Ingrid van de Laar  Lies H. Hoefsloot  Ronald J Admiraal 

Publication date January 1, 2008
Language English
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