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Open Access Publications from the University of California

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

  • Author(s): Scheidecker, S
  • Etard, C
  • Pierce, NW
  • Geoffroy, V
  • Schaefer, E
  • Muller, J
  • Chennen, K
  • Flori, E
  • Pelletier, V
  • Poch, O
  • Marion, V
  • Stoetzel, C
  • Straehle, U
  • Nachury, MV
  • Dollfus, H
  • et al.

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