http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_head
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_assertion
http://identifiers.org/ncbigene/164656
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/C0162316
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/DGNa906379691e63e105e7fa5af24e7a8bb
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/164656
http://rdf.disgenet.org/resource/gda/DGNa906379691e63e105e7fa5af24e7a8bb
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0162316
http://rdf.disgenet.org/resource/gda/DGNa906379691e63e105e7fa5af24e7a8bb
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_assertion
http://purl.org/dc/terms/description
[Thus, the phenotype associated with the unique combination of mutations uncovered in both patients expands the spectrum of disease associated with TMPRSS6 mutations to include iron deficiency anemia that is accompanied by hyperferritinemia at initial presentation and is responsive to continued oral iron therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_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/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23319530
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_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/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/dc/terms/created
2016-05-13T12:49:39+02:00
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1043887.RA98UMMKi-Lym4w3WsVJo2BQrr-f9y6Hpo8xxWjx79OrE
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