Rs35520756

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.


 * is_associated_with_disease::Bardet-Biedl syndrome
 * is_associated_with_disease::Syndrome