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NCBI Description of BBS1 |
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. |
Community Annotation of BBS1 Add / Edit BBS1: Annotations
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Figure notes
• "Mouse over" a mutation to see details. |
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Data details