@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_head
{
this:
np:hasAssertion
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_assertion
;
np:hasProvenance
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_provenance
;
np:hasPublicationInfo
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_assertion
a
np:Assertion
.
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_provenance
a
np:Provenance
.
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_assertion
{
miriam-gene:6329
a
ncit:C16612
.
lld:C0238357
a
ncit:C7057
.
dgn-gda:DGNd1263b9c57d9eda4bf244faf90c61cfd
sio:SIO_000628
miriam-gene:6329
,
lld:C0238357
;
a
sio:SIO_001121
.
}
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_provenance
{
dgn-np:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_assertion
dcterms:description
"[Recent molecular studies of the original cases of normokalemic periodic paralysis (normoKPP) have raised suspicions that these families actually had hyperkalemic periodic paralysis (hyperKPP) due to mutations in the skeletal muscle sodium channel gene SCN4A.]. 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:22926674
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP271399.RA7RnSATl-Vsd83kEwxv5eIVNFXH9VjL0lkD6-T9BlXFk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:31+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}