@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4
> .
@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:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_head
{
this:
np:hasAssertion
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_assertion
;
np:hasProvenance
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_provenance
;
np:hasPublicationInfo
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_assertion
a
np:Assertion
.
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_provenance
a
np:Provenance
.
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_assertion
{
miriam-gene:6329
a
ncit:C16612
.
lld:C0238357
a
ncit:C7057
.
dgn-gda:DGNa3cdae908c7d0051336be1d09e07fca2
sio:SIO_000628
miriam-gene:6329
,
lld:C0238357
;
a
sio:SIO_001121
.
}
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_provenance
{
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_assertion
dcterms:description
"[DNA from seven unrelated patients with hyperkalemic periodic paralysis (HYPP) was examined for mutations in the adult skeletal muscle sodium channel gene (SCN4A) known to be genetically linked to the disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:1659948
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP29034.RA5Q0dP9amPiWI33LqyJuuIfqG6nnR76Wpc9j5EV64lL4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:12+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" .
}