XB-GENEPAGE-996060
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bbs7
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Bardet-Biedl syndrome 7
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(
Nomenclature history )
AI Protein Function
:
bbs7 encodes a BBSome component required for ciliogenesis and ciliary membrane trafficking, functioning as a membrane‑associated protein of the basal body and ciliary axoneme; it is expressed in ciliat...[+]
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Diseases:
Disease Ontology:
Bardet-Biedl syndrome 1
MIM:
BARDET-BIEDL SYNDROME 1; BBS1
External Links:
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