Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18) (Q37664307)
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scientific article published on 11 September 2013
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English | Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18) |
scientific article published on 11 September 2013 |
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Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18) (English)
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Uwe Strähle
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Hélène Dollfus
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Elise Schaefer
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Sophie Scheidecker
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Christelle Etard
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Nathan W Pierce
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Véronique Geoffroy
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Kirsley Chennen
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Elisabeth Flori
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Valérie Pelletier
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Olivier Poch
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Vincent Marion
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Corinne Stoetzel
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11 September 2013
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132-136
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