@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:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_head { this: np:hasAssertion dgn-np:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_assertion; np:hasProvenance dgn-np:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_provenance; np:hasPublicationInfo dgn-np:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_publicationInfo; a np:Nanopublication . dgn-np:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_assertion a np:Assertion . dgn-np:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_provenance a np:Provenance . dgn-np:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_publicationInfo a np:PublicationInfo . } dgn-np:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_assertion { miriam-gene:3030 a ncit:C16612 . lld:C0020615 a ncit:C7057 . dgn-gda:DGNf07299ae8ed95cd5e368638fc5b3c497 sio:SIO_000628 miriam-gene:3030, lld:C0020615; a sio:SIO_001121 . } dgn-np:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_provenance { dgn-np:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_assertion dcterms:description "[We investigated individuals with hyperinsulinaemic hypoglycaemia and biochemical or genetic evidence to suggest noncoding mutations by using NGS to analyze the entire genomic regions of ABCC8 (117 kb) and HADH (94 kb) from overlapping ~10 kb PCR amplicons.]. 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:23273570; 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:NP744560.RAkPx26tj1jm5iacTNGcv-mQDEUaxRf172LDc09wED_eo130_publicationInfo { this: dcterms:created "2014-10-02T12:39:31+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" . }