@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g
> .
@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:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_head
{
this:
np:hasAssertion
dgn-np:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_assertion
;
np:hasProvenance
dgn-np:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_provenance
;
np:hasPublicationInfo
dgn-np:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_assertion
a
np:Assertion
.
dgn-np:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_provenance
a
np:Provenance
.
dgn-np:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_assertion
{
miriam-gene:3784
a
ncit:C16612
.
lld:C0023976
a
ncit:C7057
.
dgn-gda:DGNa0d8fc7094b1b2385c4853471bfd021c
sio:SIO_000628
miriam-gene:3784
,
lld:C0023976
;
a
sio:SIO_001122
.
}
dgn-np:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_provenance
{
dgn-np:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_assertion
dcterms:description
"[Two First Nations communities in northern British Columbia are affected disproportionately with LQTS largely due to the V205M mutation in KCNQ1, however, the pathology and phenotypic expression for those V205M homozygous has been unknown.]. 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:23844633
;
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:NP1093059.RAlc1duqEJYBaP0nsyqVMw7YhoON1PPfxtCUr5JACBH0g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:01+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" .
}