@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_head { this: np:hasAssertion dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_assertion; np:hasProvenance dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_provenance; np:hasPublicationInfo dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_publicationInfo; a np:Nanopublication . dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_assertion a np:Assertion . dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_provenance a np:Provenance . dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_assertion { miriam-gene:164656 a ncit:C16612 . lld:C0162316 a ncit:C7057 . dgn-gda:DGNa906379691e63e105e7fa5af24e7a8bb sio:SIO_000628 miriam-gene:164656, lld:C0162316; a sio:SIO_001121 . } dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_provenance { dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_assertion dcterms: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."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:23319530; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP977557.RAs3PzZmPYh35XlS2EaTAWfVVLgrVOc_dmRoTR00NAcDQ130_publicationInfo { this: dcterms:created "2015-08-25T14:47:37+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }