@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:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_head { this: np:hasAssertion dgn-np:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_assertion; np:hasProvenance dgn-np:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_provenance; np:hasPublicationInfo dgn-np:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_publicationInfo; a np:Nanopublication . dgn-np:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_assertion a np:Assertion . dgn-np:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_provenance a np:Provenance . dgn-np:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_publicationInfo a np:PublicationInfo . } dgn-np:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_assertion { miriam-gene:3918 a ncit:C16612 . lld:C3495554 a ncit:C7057 . dgn-gda:DGNcff0dfa170b60b2489a68ac1df1f6767 sio:SIO_000628 miriam-gene:3918, lld:C3495554; a sio:SIO_001121 . } dgn-np:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_provenance { dgn-np:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_assertion dcterms:description "[GABA-transaminase deficiency and homocarnosinosis appear to be very rare but require CSF for detection, thus allowing for the possibility that these entities, as in the other pediatric neurotransmitter disorders, are underrecognized.]. 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:15021235; 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:NP312445.RAhT3oygssZEAB69CmFVSV3tJFiSOapWR37myILHbRaQg130_publicationInfo { this: dcterms:created "2014-10-02T12:34:59+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" . }