http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#head
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#assertion
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#provenance
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#assertion
http://rdf.disgenet.org/resource/gda/DGN0983cd724f02ea4c0d95c7d9a379c2ff
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3077
http://rdf.disgenet.org/resource/gda/DGN0983cd724f02ea4c0d95c7d9a379c2ff
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0282193
http://rdf.disgenet.org/resource/gda/DGN0983cd724f02ea4c0d95c7d9a379c2ff
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#provenance
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#assertion
http://purl.org/dc/terms/description
[Five patients had no HFE mutations; one of these patients unequivocally has iron overload with a hepatic iron index of 4.4 We conclude that: (1) Identification of HFE mutations will be clinically useful in identifying patients with hereditary hemochromatosis, (2) Patient genotyping will help confirm a diagnosis of hereditary hemochromatosis in some patients with relatively low body iron stores, (3) Significant iron loading can occur in the absence of homozygous C282Y, adding to the evidence that genes other than HFE may be involved in iron loading, and (4) Homozygous H63D can be associated with significant iron overload.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#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/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9410475
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#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/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/dc/terms/created
2017-10-17T13:13:16+02:00
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP485388.RAS0DEnRaka1ol19n5zwGYfvZ58tA_P9u2wrglIJ2YkPI
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