@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk
> .
@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:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_head
{
this:
np:hasAssertion
dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_assertion
;
np:hasProvenance
dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_assertion
a
np:Assertion
.
dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_provenance
a
np:Provenance
.
dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_assertion
{
miriam-gene:3784
a
ncit:C16612
.
lld:C1141890
a
ncit:C7057
.
dgn-gda:DGN80e9326bfc09c0d37fb5cce3351b9281
sio:SIO_000628
miriam-gene:3784
,
lld:C1141890
;
a
sio:SIO_001122
.
}
dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_provenance
{
dgn-np:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_assertion
dcterms:description
"[The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African founder mutation p.A341V in KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening).]. 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:24217263
;
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:NP1126994.RAbwW_Nl8Juf2HXHEhRKP8fA7O1WCiuMODBAKVACYo4Hk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:17+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" .
}