@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_head
{
this:
np:hasAssertion
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_assertion
;
np:hasProvenance
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_provenance
;
np:hasPublicationInfo
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_assertion
a
np:Assertion
.
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_provenance
a
np:Provenance
.
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_assertion
{
miriam-gene:1437
a
ncit:C16612
.
lld:C0268632
a
ncit:C7057
.
dgn-gda:DGN284fcd8e6a398c356e9910dbca00e52d
sio:SIO_000628
miriam-gene:1437
,
lld:C0268632
;
a
sio:SIO_001121
.
}
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_provenance
{
dgn-np:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_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:NP445000.RAcPclSYgwIQQXTgCaMJZBopeeez35bkhv24AXyIM71R8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:25+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}