http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#head http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#assertion http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#provenance http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#assertion http://rdf.disgenet.org/resource/gda/DGN1dbf6d89c0f5b268aa956a8fd2c6afc8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/30061 http://rdf.disgenet.org/resource/gda/DGN1dbf6d89c0f5b268aa956a8fd2c6afc8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0392514 http://rdf.disgenet.org/resource/gda/DGN1dbf6d89c0f5b268aa956a8fd2c6afc8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#provenance http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#assertion http://purl.org/dc/terms/description [The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#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/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21411349 http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#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/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/dc/terms/created 2017-10-17T13:18:27+02:00 http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1298301.RAfHsVZtk2yvVE975MWUPMBQ1PbZh3F_dAmjOuI-mHEy8 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