http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#head http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#assertion http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#provenance http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#assertion http://rdf.disgenet.org/resource/gda/DGN085bfa1bf8d0427a32363f1aabce3d62 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2516 http://rdf.disgenet.org/resource/gda/DGN085bfa1bf8d0427a32363f1aabce3d62 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0156394 http://rdf.disgenet.org/resource/gda/DGN085bfa1bf8d0427a32363f1aabce3d62 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#provenance http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#assertion http://purl.org/dc/terms/description [The diagnosis of POI was made on pubertal delay or primary amenorrhea in these five patients, whilst the others presented with clitoral hypertrophy at birth or short stature and pubertal delay in two cases with NR5A1 mutation or with short stature and learning difficulties in one case with mitochondrial disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#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/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25425520 http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#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/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/dc/terms/created 2017-10-17T13:12:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP420246.RAUMt3V-4ankilv2-qTM9GXl4XUmSRj6b_PfqS39oxai8 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