@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:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_head { this: np:hasAssertion dgn-np:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_assertion; np:hasProvenance dgn-np:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_provenance; np:hasPublicationInfo dgn-np:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_publicationInfo; a np:Nanopublication . dgn-np:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_assertion a np:Assertion . dgn-np:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_provenance a np:Provenance . dgn-np:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_publicationInfo a np:PublicationInfo . } dgn-np:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_assertion { miriam-gene:178 a ncit:C16612 . lld:C0017919 a ncit:C7057 . dgn-gda:DGN104dd4cbdfb700657685ef2e87847e38 sio:SIO_000628 miriam-gene:178, lld:C0017919; a sio:SIO_001121 . } dgn-np:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_provenance { dgn-np:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_assertion dcterms:description "[Glycogen Storage Disease Type III (limit dextrinosis; Cori or Forbes disease) is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme in liver and muscle (Glycogen Storage Disease Type IIIa) or liver only (Glycogen Storage Disease Type IIIb).]. 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:20648714; 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:NP827442.RALNNrZvfAfqlfHvh_pr83uf5LmaFVb6u8yQa8zt_f3tw130_publicationInfo { this: dcterms:created "2016-05-13T12:48:00+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" . }