http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_head http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion http://identifiers.org/ncbigene/8195 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#DGN046793527c78050188340f44bf13f562 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8195 http://rdf.disgenet.org/gene-disease-association.ttl#DGN046793527c78050188340f44bf13f562 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0152427 http://rdf.disgenet.org/gene-disease-association.ttl#DGN046793527c78050188340f44bf13f562 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_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#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_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#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21044901 http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_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#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_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#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/dc/terms/created 2014-10-02T12:38:26+02:00 http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP641012.RAMkGl1OCoon_xSpLD-IboBAEJkNxdjH0v7X7sZvQpJWQ 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