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: Sophie Scheidecker Elise Schaefer Maxence V. Nachury Vincent Marion Olivier Poch Corinne Stoetzel Uwe Strähle Hélène Dollfus Jean Muller Véronique Geoffroy |
| Publication date | September 11, 2013 |
| Language | English |
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