@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:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_head { this: np:hasAssertion dgn-np:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_assertion; np:hasProvenance dgn-np:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_provenance; np:hasPublicationInfo dgn-np:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_publicationInfo; a np:Nanopublication . dgn-np:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_assertion a np:Assertion . dgn-np:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_provenance a np:Provenance . dgn-np:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_publicationInfo a np:PublicationInfo . } dgn-np:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_assertion { miriam-gene:2538 a ncit:C16612 . lld:C0017920 a ncit:C7057 . dgn-gda:DGN3e516c2678ced5e859b73b812ba7c0ff sio:SIO_000628 miriam-gene:2538, lld:C0017920; a sio:SIO_001121 . } dgn-np:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_provenance { dgn-np:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_assertion dcterms:description "[We studied the glucose-6-phosphatase (G6Pase) gene of 30 unrelated glycogen storage disease type Ia (GSD Ia) patients using single strand conformational polymorphism (SSCP) prior to automated sequencing of exons revealing an aberrant SSCP pattern.]. 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:10834516; 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:NP285348.RAtonRRLIO_jYQFi5bSH5nhWpYH3knqSJlR8KxoSHS6q0130_publicationInfo { this: dcterms:created "2016-05-13T12:43:55+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" . }