http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_head http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_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/C0269209 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#DGNd97f9e5c8ae0654449d02e6d1eb1f725 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8195 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd97f9e5c8ae0654449d02e6d1eb1f725 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0269209 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd97f9e5c8ae0654449d02e6d1eb1f725 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_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#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_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#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21044901 http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_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#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_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#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/dc/terms/created 2014-10-02T12:36:28+02:00 http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U 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