@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk
> .
@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:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_head
{
this:
np:hasAssertion
dgn-np:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_assertion
;
np:hasProvenance
dgn-np:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_provenance
;
np:hasPublicationInfo
dgn-np:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_assertion
a
np:Assertion
.
dgn-np:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_provenance
a
np:Provenance
.
dgn-np:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_assertion
{
miriam-gene:3784
a
ncit:C16612
.
lld:C0339789
a
ncit:C7057
.
dgn-gda:DGNe7a1c8dde89892a05d30d7595a97ab02
sio:SIO_000628
miriam-gene:3784
,
lld:C0339789
;
a
sio:SIO_001121
.
}
dgn-np:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_provenance
{
dgn-np:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_assertion
dcterms:description
"[These data extend the range of known KCNQ1 mutations associated with both recessive and dominant forms of congenital long QT syndrome, and demonstrate that the R518X allele may be associated with or without congenital deafness.]. 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:10737999
;
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:NP343741.RAiVDLqqFNFhGj5sK5ohjnX-mCyFR5qkNh4fYEfO3DUZk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:22+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" .
}