@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68
> .
@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:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_head
{
this:
np:hasAssertion
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_assertion
;
np:hasProvenance
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_provenance
;
np:hasPublicationInfo
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_assertion
a
np:Assertion
.
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_provenance
a
np:Provenance
.
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_assertion
{
miriam-gene:9474
a
ncit:C16612
.
lld:C0024143
a
ncit:C7057
.
dgn-gda:DGN740ea4afd895408be6317aaff08fa6dc
sio:SIO_000628
miriam-gene:9474
,
lld:C0024143
;
a
sio:SIO_001121
.
}
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_provenance
{
dgn-np:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_assertion
dcterms:description
"[Although these rare variants were observed to be located in the flanking regions of exons instead of missense mutations, patients carrying them tended to have severe clinical phenotype, and in silicon analysis suggested their regulatory effects.Increased frequencies of rare variants of ATG5 were identified in patients with LN and SLE compared with healthy controls, highlighting a likely important role of rare ATG5 variants in Chinese SLE 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:26039132
;
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:NP1286408.RAC79hHKIu3cPMjPL5-CfnKW8uyJiD7BFBVIXd5ybUi68130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:29+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" .
}