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  • Rule: ActivityStreamsMapasEquivalentb3sb3sifpdbprdf-labelfacetshttp://dbpedia.org/resource/inference/rules/dbpedia#http://dbpedia.org/resource/inference/rules/opencyc#http://dbpedia.org/resource/inference/rules/umbel#http://dbpedia.org/resource/inference/rules/yago#http://dbpedia.org/schema/property_rules#http://www.ontologyportal.org/inference/rules/SUMO#http://www.ontologyportal.org/inference/rules/WordNet#http://www.w3.org/2002/07/owl#ldpoplwebskos-transurn:det:rdf:labelvirtrdf-labelvirtrdf-urlNone
    
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About: BBS4     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Protein, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingBiomoleculegeneBiomoleculeGeneHumanGeneprotein New Facet based on Instances of this Class

Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene. This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.