@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1166233.RA26PRq6gr-POT0ojux4RoOiDiJV75LwOx-lXZ_l99D_8
> .
@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:NP1166233.RA26PRq6gr-POT0ojux4RoOiDiJV75LwOx-lXZ_l99D_8130_head
{
this:
np:hasAssertion
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;
np:hasProvenance
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;
np:hasPublicationInfo
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a
np:Nanopublication
.
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a
np:Assertion
.
dgn-np:NP1166233.RA26PRq6gr-POT0ojux4RoOiDiJV75LwOx-lXZ_l99D_8130_provenance
a
np:Provenance
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a
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{
miriam-gene:5318
a
ncit:C16612
.
lld:C1142166
a
ncit:C7057
.
dgn-gda:DGN959e1778d286b159b55b8c20b270bd14
sio:SIO_000628
miriam-gene:5318
,
lld:C1142166
;
a
sio:SIO_001121
.
}
dgn-np:NP1166233.RA26PRq6gr-POT0ojux4RoOiDiJV75LwOx-lXZ_l99D_8130_provenance
{
dgn-np:NP1166233.RA26PRq6gr-POT0ojux4RoOiDiJV75LwOx-lXZ_l99D_8130_assertion
dcterms:description
"[We review evidence indicating that (1) loss of desmosomal integrity (including mutations or loss of expression of plakophilin-2; PKP2) leads to reduced sodium current (INa), (2) the PKP2-INa relation could be partly consequent to the fact that PKP2 facilitates proper trafficking of proteins to the intercalated disc, and (3) PKP2 mutations can be present in patients diagnosed with Brugada syndrome (BrS), thus supporting the previously proposed notion that AC and BrS are not two completely separate entities, but bookends in a continuum of variable sodium current deficiency and structural disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:24656989
;
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:NP1166233.RA26PRq6gr-POT0ojux4RoOiDiJV75LwOx-lXZ_l99D_8130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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sio:SIO_000983
;
prv:usedData
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pav:authoredBy
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
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> ;
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<
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> ;
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"v4.0.0" .
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