@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw
> .
@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:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_head
{
this:
np:hasAssertion
dgn-np:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion
;
np:hasProvenance
dgn-np:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance
;
np:hasPublicationInfo
dgn-np:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion
a
np:Assertion
.
dgn-np:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance
a
np:Provenance
.
dgn-np:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion
{
miriam-gene:10516
a
ncit:C16612
.
lld:C0010495
a
ncit:C7057
.
dgn-gda:DGN9db2b962c64b27d93d81937886a14e03
sio:SIO_000628
miriam-gene:10516
,
lld:C0010495
;
a
sio:SIO_001121
.
}
dgn-np:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_provenance
{
dgn-np:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_assertion
dcterms:description
"[A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval.]. 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:21576112
;
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:NP455409.RAMxeWyqsR36uiGZQGt3gti58EOn59mKhU-lWF3R-saMw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:31+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" .
}