http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#head
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#assertion
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#provenance
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#assertion
http://rdf.disgenet.org/resource/gda/DGN3262985584cc5eb8b5c34c0a3f290845
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2516
http://rdf.disgenet.org/resource/gda/DGN3262985584cc5eb8b5c34c0a3f290845
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0302885
http://rdf.disgenet.org/resource/gda/DGN3262985584cc5eb8b5c34c0a3f290845
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#provenance
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#assertion
http://purl.org/dc/terms/description
[NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia with clitoromegaly, and penoscrotal hypospadias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21654157
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v5.0.0/void/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/dc/terms/created
2017-10-17T13:12:51+02:00
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP420332.RAmaai7St5JATo0JAjLHzwuu72RIXek-I3JZ4uDo7341A
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0