@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE
> .
@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:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_head
{
this:
np:hasAssertion
dgn-np:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_assertion
;
np:hasProvenance
dgn-np:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_provenance
;
np:hasPublicationInfo
dgn-np:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_assertion
a
np:Assertion
.
dgn-np:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_provenance
a
np:Provenance
.
dgn-np:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_assertion
{
miriam-gene:348932
a
ncit:C16612
.
lld:C0543541
a
ncit:C7057
.
dgn-gda:DGNf2fa25a4c1751b3959cb0fd875c469d4
sio:SIO_000628
miriam-gene:348932
,
lld:C0543541
;
a
sio:SIO_001121
.
}
dgn-np:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_provenance
{
dgn-np:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_assertion
dcterms:description
"[Additional mutations were identified in the genes encoding the putative glycine transporter SLC6A18 (XT2) and the neutral amino acid transporter SLC6A19 (B0AT1) in families with either IG or HG, suggesting that mutations in the genes encoding these transporters may also contribute to these phenotypes.]. 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:19033659
;
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:NP717369.RA2IvbJuO3WMsTO8xD_2ntfMLZUlnKJkiVnLy73W0u5OE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:15+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" .
}