@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ
> .
@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:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_head
{
this:
np:hasAssertion
dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_assertion
;
np:hasProvenance
dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_assertion
a
np:Assertion
.
dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_provenance
a
np:Provenance
.
dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_assertion
{
miriam-gene:845
a
ncit:C16612
.
lld:C1631597
a
ncit:C7057
.
dgn-gda:DGN8ebcc351043d1b118514c4d762b9c2af
sio:SIO_000628
miriam-gene:845
,
lld:C1631597
;
a
sio:SIO_001121
.
}
dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_provenance
{
dgn-np:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_assertion
dcterms:description
"[Moreover, our report of the first splicing abnormalities in CASQ2 caused by intronic mutation or synonymous change underlines the absolute necessity to perform extensive molecular analysis for genetic diagnosis and counseling of CPVT.]. 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:21618644
;
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:NP897447.RAcv4cFvQyAt7nycjEAYsPbu_pmHYsQq9snlgC31CmcvQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:31+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" .
}