@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:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_head { this: np:hasAssertion dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_assertion; np:hasProvenance dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_provenance; np:hasPublicationInfo dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_publicationInfo; a np:Nanopublication . dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_assertion a np:Assertion . dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_provenance a np:Provenance . dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_publicationInfo a np:PublicationInfo . } dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_assertion { miriam-gene:212 a ncit:C16612 . lld:C0002896 a ncit:C7057 . dgn-gda:DGNd6e7ce3902bc7e88eaeed23280cf158b sio:SIO_000628 miriam-gene:212, lld:C0002896; a sio:SIO_001121 . } dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_provenance { dgn-np:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_assertion dcterms:description "[Analysis of the inheritance of this intragenic polymorphism showed that the affected sibs received different maternal alleles at the ALAS2 locus, excluding mutations in this gene as the cause of their sideroblastic anaemia.]. 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:7912287; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP559281.RAkzMHmcWDzYZfj-j-1pU410Mj9sQ_CZHmdtCCBuF6T0g130_publicationInfo { this: dcterms:created "2014-10-02T12:37:37+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }