@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow
> .
@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:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_head
{
this:
np:hasAssertion
dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_assertion
;
np:hasProvenance
dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_provenance
;
np:hasPublicationInfo
dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_assertion
a
np:Assertion
.
dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_provenance
a
np:Provenance
.
dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_assertion
{
miriam-gene:3784
a
ncit:C16612
.
lld:C0039070
a
ncit:C7057
.
dgn-gda:DGN7dc90aedaad9cc67bb1fc13d16ffec17
sio:SIO_000628
miriam-gene:3784
,
lld:C0039070
;
a
sio:SIO_001122
.
}
dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_provenance
{
dgn-np:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_assertion
dcterms:description
"[Although G269S in the KVLQT1 gene was detected in a female with known family history of syncope and sudden cardiac death, no other mutations were found in any of the 14 cases, and no other mutations was found in 200 controls.]. 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:16436635
;
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:NP532900.RAXC-E9MWYcSrK4RKFjHY0Wn0X6smKP_cqOTbmj3hmxow130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:46+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" .
}