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  • Molecular assay reagents intended to identify mutations in the Bardet-Biedl syndrome (BBS1) gene, located at chromosome 11q13, which encodes for a protein that may be involved in eye, limb, cardiac, and reproductive system development. Mutations at this locus have been identified in patients with Bardet-Biedl syndrome type 1 (BBSI), a heterogeneous disorder linked to various other loci.
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