@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A
> .
@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:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_head
{
this:
np:hasAssertion
dgn-np:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_assertion
;
np:hasProvenance
dgn-np:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_provenance
;
np:hasPublicationInfo
dgn-np:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_assertion
a
np:Assertion
.
dgn-np:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_provenance
a
np:Provenance
.
dgn-np:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_assertion
{
miriam-gene:8140
a
ncit:C16612
.
lld:C0751435
a
ncit:C7057
.
dgn-gda:DGNaa4e5f5d4a7c88559b2314ccbc7cf56d
sio:SIO_000628
miriam-gene:8140
,
lld:C0751435
;
a
sio:SIO_001121
.
}
dgn-np:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_provenance
{
dgn-np:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_assertion
dcterms:description
"[As phenylalanine excess in the brain leads to mental retardation in untreated patients with phenylketonuria, mutations of the LAT1 gene can be responsible for milder clinical manifestations (lower brain toxicity of hyperphenylalaninaemia) observed in some patients.]. 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:16972176
;
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:NP620313.RASLS8S5zrjFG9t1iKV0yk4z4LraOlTNumekvKAOtvI0A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:14+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" .
}