@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:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_head { this: np:hasAssertion dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_assertion; np:hasProvenance dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_provenance; np:hasPublicationInfo dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_publicationInfo; a np:Nanopublication . dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_assertion a np:Assertion . dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_provenance a np:Provenance . dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_assertion { miriam-gene:178 a ncit:C16612 . lld:C1968739 a ncit:C7057 . dgn-gda:DGNc91ff35d70fc51432c43e2246ae6d58d sio:SIO_000628 miriam-gene:178, lld:C1968739; a sio:SIO_001121 . } dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_provenance { dgn-np:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_assertion dcterms:description "[The spectrum of AGL mutations in GSD IIIa patients depends on ethnic group-prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe islands, because of the founder effect, whereas heterogeneous mutations are responsible for the pathogenesis in Japanese patients.]. 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:16189622; 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:NP228461.RAMvcMeHOiTpzd71gfGdsjGAB2hP8ihswiIBXm5ZkBOLQ130_publicationInfo { this: dcterms:created "2015-08-25T14:39:50+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" . }