@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I
> .
@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:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_head
{
this:
np:hasAssertion
dgn-np:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_assertion
;
np:hasProvenance
dgn-np:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_provenance
;
np:hasPublicationInfo
dgn-np:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_assertion
a
np:Assertion
.
dgn-np:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_provenance
a
np:Provenance
.
dgn-np:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_assertion
{
miriam-gene:3784
a
ncit:C16612
.
lld:C1141890
a
ncit:C7057
.
dgn-gda:DGN637ef29c58a00a20036e34ddc1ad69b3
sio:SIO_000628
miriam-gene:3784
,
lld:C1141890
;
a
sio:SIO_001122
.
}
dgn-np:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_provenance
{
dgn-np:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_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-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:NP279312.RASo5KuzjTtuR9SFJM1gqCa0TM_XR7bNlozPSjRA3o0_I130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:52+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" .
}