http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#head http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#assertion http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#provenance http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#assertion http://rdf.disgenet.org/resource/gda/DGN0e768fe1a1b511c1bc12c187dc445335 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2516 http://rdf.disgenet.org/resource/gda/DGN0e768fe1a1b511c1bc12c187dc445335 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085215 http://rdf.disgenet.org/resource/gda/DGN0e768fe1a1b511c1bc12c187dc445335 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#provenance http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#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/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#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/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25425520 http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#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/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/dc/terms/created 2017-10-17T13:12:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP420232.RAPcMh5ookw53xtFTEHmuMeOzX26pJTx2xA8cVxPYOnfQ 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