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