http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_head http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion http://identifiers.org/ncbigene/79738 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0152427 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN2875a0cf3a00d307ce608982829ac0f6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79738 http://rdf.disgenet.org/gene-disease-association.ttl#DGN2875a0cf3a00d307ce608982829ac0f6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0152427 http://rdf.disgenet.org/gene-disease-association.ttl#DGN2875a0cf3a00d307ce608982829ac0f6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion http://purl.org/dc/terms/description [We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21044901 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/dc/terms/created 2014-10-02T12:41:13+02:00 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP899847.RAUnDaajc6RUUIVaL-BoV1EpcKeDhnOLztlpzygi3nkBA http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0