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CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

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author: Brigitte Gilbert-Dussardier  Tania Attié-Bitach  Massimiliano Rossi  Frédéric Bilan  Frederic Brioude  Marine Legendre  Sébastien Mur  Judith Melki 

Publication date December 18, 2017
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