http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_head http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_assertion http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_assertion http://identifiers.org/ncbigene/367 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/C0022735 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#DGNe532f5f19ce8b97f9a8cfe015878f181 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/367 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe532f5f19ce8b97f9a8cfe015878f181 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022735 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe532f5f19ce8b97f9a8cfe015878f181 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_assertion http://purl.org/dc/terms/description [Diagnoses included Drash syndrome with Wilms tumor in infancy (3 patients), partial androgen insensitivity resulting from androgen receptor mutations (2), true hermaphroditism (2), chromosomal aberration (1), deficiency of antimüllerian hormone (1), gonadal dysgenesis (1), partial 5 alpha-reductase deficiency caused by a novel point mutation (1), and XX-male syndrome (1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_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#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9329414 http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_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#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_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#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/dc/terms/created 2014-10-02T12:38:30+02:00 http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP648247.RA-hEerXwKGwjDk0pyzHIddFH7Hk8RX7_sjmpAjmzycn0 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