@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_head
{
this:
np:hasAssertion
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_assertion
;
np:hasProvenance
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_provenance
;
np:hasPublicationInfo
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_assertion
a
np:Assertion
.
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_provenance
a
np:Provenance
.
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_assertion
{
miriam-gene:6519
a
ncit:C16612
.
lld:C0010691
a
ncit:C7057
.
dgn-gda:DGN3592eb05151e6058febcd48d1b0e61e5
sio:SIO_000628
miriam-gene:6519
,
lld:C0010691
;
a
sio:SIO_001121
.
}
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_provenance
{
dgn-np:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_assertion
dcterms:description
"[Although some molecular variants within the SLC3A1 gene were associated with clinical traits in cystinuria patients, the low detection rate of mutations in this gene strongly suggests that variation of the SLC3A1 is not the major genetic factor contributing to cystinuria in this Mediterranean population.]. 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:15691362
;
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:NP479318.RA1PGyIC3U0Uuu90a3eXhcQOWmd8_JaBcJHiDyvoLIvLc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:22+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}