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BBS1 Bardet-Biedl syndrome 1

Also known as: BBS2L2

Summary

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

Genomic context

Location:
11q13.2
Sequence:
Chromosome: 11; NC_000011.10 (66510648..66533613)
Total number of exons:
17

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