http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_head http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion http://identifiers.org/ncbigene/4683 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/C0520463 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#DGN1f2eae46e9bf15b41ac01f2efe5e44cd http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4683 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1f2eae46e9bf15b41ac01f2efe5e44cd http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0520463 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1f2eae46e9bf15b41ac01f2efe5e44cd http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion http://purl.org/dc/terms/description [Molecular testing on 39 patients (25 identified by NBS) with an already established diagnosis of CAH identified 11 SW patients (8 identified by NBS) whose mutations suggested further biochemical and clinical reassessment of their subtype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_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#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21534945 http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_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#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_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#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/dc/terms/created 2014-10-02T12:34:53+02:00 http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP302079.RAOBT9dFcuQuXTLN4xCL-EmbMXAqx_5LGFZGyQnAMNYnM 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