@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw
> .
@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:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_head
{
this:
np:hasAssertion
dgn-np:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
;
np:hasProvenance
dgn-np:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_provenance
;
np:hasPublicationInfo
dgn-np:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
a
np:Assertion
.
dgn-np:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_provenance
a
np:Provenance
.
dgn-np:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
{
miriam-gene:3756
a
ncit:C16612
.
lld:C0796013
a
ncit:C7057
.
dgn-gda:DGN3bb46f48e0d3a637cfedb72ce2f97565
sio:SIO_000628
miriam-gene:3756
,
lld:C0796013
;
a
sio:SIO_001121
.
}
dgn-np:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_provenance
{
dgn-np:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_assertion
dcterms:description
"[In summary, we show that the phenotypic variability of individuals with KCNH1 mutations is more pronounced than previously expected, and we discuss whether KCNH1 mutations allow for lumping or for splitting of TMBTS and ZLS.]. 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:26264464
;
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:NP1292319.RAw7LfcV_52AKJwglFQ1f8bL-4cgJbbem-llUHjYdO2Zw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:32+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" .
}