http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_head http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_assertion http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_assertion http://identifiers.org/ncbigene/1403 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/C0206762 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#DGNea3c636346b21a889ed43624313b1431 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1403 http://rdf.disgenet.org/gene-disease-association.ttl#DGNea3c636346b21a889ed43624313b1431 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0206762 http://rdf.disgenet.org/gene-disease-association.ttl#DGNea3c636346b21a889ed43624313b1431 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_assertion http://purl.org/dc/terms/description [Clinical and postmortem findings included craniocerebral asymmetry, craniosynostosis of a lambdoid suture, arhinencephaly, hypertelorism, anomalies of the ethmoidal portion of the cranial base, large anterior fontanelle, low set ears, ventricular septal defect (VSD), dysplastic tricuspid and pulmonic valves, hypoplastic genitalia, bilateral dislocated hips, and other minor limb malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_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#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/3631140 http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_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#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_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#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/dc/terms/created 2014-10-02T12:40:37+02:00 http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP846789.RADv_xKhFoD6_E6pih0E-xzSUZGqwjtP4j0EE3mD07xSo 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