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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.
AI451249; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1 (human); Bardet-Biedl syndrome 1 homolog; Bardet-Biedl syndrome 1 protein; Bardet-Biedl syndrome 1 protein homolog; BBS1; BBS2L2; BBS2-like protein 2; D19Ertd609e
100 µg
100 µL
100 µL