http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_head http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_assertion http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_provenance http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_assertion http://identifiers.org/ncbigene/2516 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/C0235797 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/resource/gda/DGNccb4a5a2b7cdb071bb505b2ff61e87ed http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2516 http://rdf.disgenet.org/resource/gda/DGNccb4a5a2b7cdb071bb505b2ff61e87ed http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0235797 http://rdf.disgenet.org/resource/gda/DGNccb4a5a2b7cdb071bb505b2ff61e87ed http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_provenance http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_assertion http://purl.org/dc/terms/description [We identified heterozygous NR5A1 mutations in 4 cases of ambiguous external genitalia without uterus (12.1%; p.Trp279Arg, pArg39Pro, c.390delG, c140_141insCACG) and a de novo missense mutation in one case with distal hypospadias (3%; p.Arg313Cys).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22028768 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/dc/terms/created 2015-08-25T14:41:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP413564.RAky7eqpC0StRVFnrXwRXV18bA6EwRtBHlrZsD-_xz9io http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0