http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_head
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_assertion
http://identifiers.org/ncbigene/3077
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/C0392514
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/DGN289df633483d835dfb49f2ac52e064fb
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3077
http://rdf.disgenet.org/resource/gda/DGN289df633483d835dfb49f2ac52e064fb
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0392514
http://rdf.disgenet.org/resource/gda/DGN289df633483d835dfb49f2ac52e064fb
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_assertion
http://purl.org/dc/terms/description
[We used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of HH in 98 individuals homozygous for the variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[Cys282Tyr].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26365338
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/dc/terms/created
2016-05-13T12:51:32+02:00
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1294072.RACweI0F_wTtczA2RI9b8pV7N429T3BQjY_QxSVwlw9Ns
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0