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http://purl.uniprot.org/citations/21737058http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21737058http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21737058http://www.w3.org/2000/01/rdf-schema#comment"3-M syndrome, a primordial growth disorder, is associated with mutations in CUL7 and OBSL1. Exome sequencing now identifies mutations in CCDC8 as a cause of 3-M syndrome. CCDC8 is a widely expressed gene that is transcriptionally associated to CUL7 and OBSL1, and coimmunoprecipitation indicates a physical interaction between CCDC8 and OBSL1 but not CUL7. We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.org/dc/terms/identifier"doi:10.1016/j.ajhg.2011.05.028"xsd:string
http://purl.uniprot.org/citations/21737058http://purl.org/dc/terms/identifier"doi:10.1016/j.ajhg.2011.05.028"xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Smith C."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Smith C."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Kirk J."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Kirk J."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Murray P.G."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Murray P.G."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Biesecker L.G."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Biesecker L.G."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Donnai D."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Donnai D."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Cole T."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Cole T."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"O'Sullivan J."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"O'Sullivan J."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Daly S."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Daly S."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Kingston H."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Kingston H."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Black G.C."xsd:string
http://purl.uniprot.org/citations/21737058http://purl.uniprot.org/core/author"Black G.C."xsd:string