Published in
BMJ Publishing Group, Journal of Medical Genetics, 2(51), p. 132-136, 2013
DOI: 10.1136/jmedgenet-2013-101785
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- BMJ Publishing Group
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)
Journal article published in 2013 by
Sophie Scheidecker,
Christelle Etard,
Nathan W. Pierce,
Véronique Geoffroy,
Elise Schaefer,
Jean Muller 
,
Kirsley Chennen ,
Elisabeth Flori,
Valérie Pelletier,
Olivier Poch,
Vincent Marion,
Corinne Stoetzel,
Uwe Strähle,
Maxence V. Nachury,
Hélène Dollfus
,
Kirsley Chennen ,
Elisabeth Flori,
Valérie Pelletier,
Olivier Poch,
Vincent Marion,
Corinne Stoetzel,
Uwe Strähle,
Maxence V. Nachury,
Hélène Dollfus
This paper is available in a repository.
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