http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#head
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#assertion
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#provenance
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#assertion
http://rdf.disgenet.org/resource/gda/DGN1fcd3824d3ac869ef53dbf912cdb94e8
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5573
http://rdf.disgenet.org/resource/gda/DGN1fcd3824d3ac869ef53dbf912cdb94e8
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0001622
http://rdf.disgenet.org/resource/gda/DGN1fcd3824d3ac869ef53dbf912cdb94e8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#provenance
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#assertion
http://purl.org/dc/terms/description
[A base substitution (c.439A>G/p.S147G) in PRKAR1A was identified in the proposita, in the three others with PPNAD, in the proposita's twin daughters who had lentigines but no evidence of hypercortisolism, and in five other family members, including one without lentigines or evidence of hypercortisolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#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/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22112814
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#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/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/dc/terms/created
2017-10-17T13:15:37+02:00
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP851994.RA9NlmpVQruAvaCc6gBhonso_mC5VSEDt11leWEoeuHQY
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