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Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

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Description scientific article published on 11 September 2013
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author: Elise Schaefer  Maxence V. Nachury  Uwe Strähle  Hélène Dollfus  Jean Muller 

Publication date September 11, 2013
Language English
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