@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:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_head { this: np:hasAssertion dgn-np:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_assertion; np:hasProvenance dgn-np:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_provenance; np:hasPublicationInfo dgn-np:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_publicationInfo; a np:Nanopublication . dgn-np:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_assertion a np:Assertion . dgn-np:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_provenance a np:Provenance . dgn-np:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_publicationInfo a np:PublicationInfo . } dgn-np:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_assertion { miriam-gene:2548 a ncit:C16612 . lld:C0342751 a ncit:C7057 . dgn-gda:DGNae2e88e8a364b14cd2108dd8936e0a31 sio:SIO_000628 miriam-gene:2548, lld:C0342751; a sio:SIO_001121 . } dgn-np:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_provenance { dgn-np:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_assertion dcterms:description "[There is an overall trend of finding higher GAA enzyme levels in patients with onset of symptoms in adulthood when compared to patients who show clinical manifestations in early childhood, aged 0-5 years, with a rapidly progressive course, but who lack the severe characteristics of classic infantile Pompe disease.]. 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:22253258; 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:NP954031.RAnzv8EtlpXkkJPR1uon_nwRhLDLNI1FKPLtuOSp2lAYg130_publicationInfo { this: dcterms:created "2016-05-13T12:48:57+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" . }