@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E
> .
@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:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_head
{
this:
np:hasAssertion
dgn-np:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_assertion
;
np:hasProvenance
dgn-np:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_provenance
;
np:hasPublicationInfo
dgn-np:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_assertion
a
np:Assertion
.
dgn-np:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_provenance
a
np:Provenance
.
dgn-np:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_assertion
{
miriam-gene:2702
a
ncit:C16612
.
lld:C0340489
a
ncit:C7057
.
dgn-gda:DGNa6e14716ea820adf823698ba54fdc6bc
sio:SIO_000628
miriam-gene:2702
,
lld:C0340489
;
a
sio:SIO_001121
.
}
dgn-np:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_provenance
{
dgn-np:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_assertion
dcterms:description
"[When resequencing GJA5, we identified the mutation A96S, previously associated with lone AF, which was not present in our control subjects or in any publicly available database or the National Heart, Lung, and Blood Institute Exome Variant Server (NHLBI EVS; 10,758 alleles).]. 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:23040431
;
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:NP717445.RAznjASjG63949Z2ydD1V82PIsx49IkS0TuPY64bin_9E130_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" .
}