@prefix orcid: . @prefix dcterms: . @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 np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_head { this: np:hasAssertion dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_assertion; np:hasProvenance dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_provenance; np:hasPublicationInfo dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_publicationInfo; a np:Nanopublication . dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_assertion a np:Assertion . dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_provenance a np:Provenance . dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_assertion { miriam-gene:212 a ncit:C16612 . lld:C0221018 a ncit:C7057 . dgn-gda:DGN6d38b805cd0cdf9bbfd9e52f2b999d6b sio:SIO_000628 miriam-gene:212, lld:C0221018; a sio:SIO_001122 . } dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_provenance { dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_assertion dcterms:description "[Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:10029606; prov:wasDerivedFrom dgn-void:uniprot-20130724; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP295.RAgXfSqYkFTHAJ-1G5WnXYSE8pz3ff158wQUOU7YIuzzQ130_publicationInfo { this: dcterms:created "2014-10-02T12:31:58+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }