@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I
> .
@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:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_head
{
this:
np:hasAssertion
dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_assertion
;
np:hasProvenance
dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_provenance
;
np:hasPublicationInfo
dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_assertion
a
np:Assertion
.
dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_provenance
a
np:Provenance
.
dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_assertion
{
miriam-gene:6383
a
ncit:C16612
.
lld:C1835450
a
ncit:C7057
.
dgn-gda:DGNcac9833a5efe7a520fe0e461aa59a242
sio:SIO_000628
miriam-gene:6383
,
lld:C1835450
;
a
sio:SIO_001121
.
}
dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_provenance
{
dgn-np:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_assertion
dcterms:description
"[Our work identifies the genetic cause of LP in these two families, demonstrates the phenotypic range of the condition, implicates dysregulation of extracellular matrix homoeostasis genes in its pathogenesis, and highlights the link between TGF-β/SMAD signalling, growth/differentiation factor 6 and syndecan-2.]. 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:24442880
;
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:NP1146481.RAl5itfw4ZRRIWXOQOazpHIvOhswLmFdzUFmFcVY1pl4I130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:26+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" .
}