@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho
> .
@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:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_head
{
this:
np:hasAssertion
dgn-np:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_assertion
;
np:hasProvenance
dgn-np:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_provenance
;
np:hasPublicationInfo
dgn-np:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_assertion
a
np:Assertion
.
dgn-np:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_provenance
a
np:Provenance
.
dgn-np:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_assertion
{
miriam-gene:3767
a
ncit:C16612
.
lld:C1458156
a
ncit:C7057
.
dgn-gda:DGN05fe8288dfeebc20bc83cd5fb14c5a16
sio:SIO_000628
miriam-gene:3767
,
lld:C1458156
;
a
sio:SIO_001121
.
}
dgn-np:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_provenance
{
dgn-np:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_assertion
dcterms:description
"[The genetic diagnosis can also help to predict the likely course of the disease and may allow accurate counselling in terms of recurrence risk for these families.This chapter focuses on the methodology used for the analysis of the KCNJ11 gene by direct sequencing.]. 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:18998097
;
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:NP855109.RALVHoflT-1PwUFZ--uEacjlhWlmlQ5FtQOon7zMFM5Ho130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:43+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" .
}