@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:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_head { this: np:hasAssertion dgn-np:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_assertion; np:hasProvenance dgn-np:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_provenance; np:hasPublicationInfo dgn-np:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_publicationInfo; a np:Nanopublication . dgn-np:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_assertion a np:Assertion . dgn-np:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_provenance a np:Provenance . dgn-np:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_publicationInfo a np:PublicationInfo . } dgn-np:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_assertion { miriam-gene:3077 a ncit:C16612 . lld:C0282193 a ncit:C7057 . dgn-gda:DGN3a2d05b4685a56515dcd427e116461b2 sio:SIO_000628 miriam-gene:3077, lld:C0282193; a sio:SIO_001122 . } dgn-np:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_provenance { dgn-np:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_assertion dcterms:description "[We have detected two new HAMP mutations in two different families, in which there is concordance between severity of iron overload and heterozygosity for HAMP mutations when present with the HFE C282Y mutation.]. 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:12915468; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP405330.RALgFdp0Ucy1KfQBHr4iHE9NlDLZlkjfwvj_QOR1ZSvtM130_publicationInfo { this: dcterms:created "2016-05-13T12:44:49+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }