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BBS1

Official Full Name
Bardet-Biedl syndrome 1
Organism
Homo sapiens
GeneID
582
Background
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]
Synonyms
BBS2L2;

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