@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk
> .
@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/v3.0.0/void/
> .
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_head
{
this:
np:hasAssertion
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_assertion
;
np:hasProvenance
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_provenance
;
np:hasPublicationInfo
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_assertion
a
np:Assertion
.
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_provenance
a
np:Provenance
.
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_assertion
{
miriam-gene:4000
a
ncit:C16612
.
lld:C0878544
a
ncit:C7057
.
dgn-gda:DGNc60274eddf9d064f254a19dfd5f7435f
sio:SIO_000628
miriam-gene:4000
,
lld:C0878544
;
a
sio:SIO_001122
.
}
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_provenance
{
dgn-np:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_assertion
dcterms:description
"[Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. LMNA mutations should be considered in the genetic screening of patients with familial DC without conduction system disease. Isolated left ventricular noncompactio]. 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:15219508
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP69678.RAY-2mSbofzQR7xRdkeozlpAFIilb7qnkz3hh5u1wisEk130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:18+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}