http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_head http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_assertion http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_assertion http://identifiers.org/ncbigene/50846 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/C0018051 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#DGN85c32bedb91dd8cfa3aedd4a6e93ec0f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/50846 http://rdf.disgenet.org/gene-disease-association.ttl#DGN85c32bedb91dd8cfa3aedd4a6e93ec0f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018051 http://rdf.disgenet.org/gene-disease-association.ttl#DGN85c32bedb91dd8cfa3aedd4a6e93ec0f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_assertion http://purl.org/dc/terms/description [Comparing previously described mutations in DHH to the one observed in this study, we can affirm that the phenotypic spectrum of patients with gonadal dysgenesis due to mutations in DHH is variable.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_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#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16390857 http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_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#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_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#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/dc/terms/created 2014-10-02T12:41:29+02:00 http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP928318.RAXY04tnSIGxgmVWwMAogyILRFkaJHyeozs-k6yRUiLhE 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