@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws
> .
@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:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_head
{
this:
np:hasAssertion
dgn-np:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_assertion
;
np:hasProvenance
dgn-np:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_provenance
;
np:hasPublicationInfo
dgn-np:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_assertion
a
np:Assertion
.
dgn-np:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_provenance
a
np:Provenance
.
dgn-np:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_assertion
{
miriam-gene:392255
a
ncit:C16612
.
lld:C1835450
a
ncit:C7057
.
dgn-gda:DGNfd34c55b803cb4abe53c17105487c10b
sio:SIO_000628
miriam-gene:392255
,
lld:C1835450
;
a
sio:SIO_001121
.
}
dgn-np:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_provenance
{
dgn-np:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_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:NP1146480.RABb2nGq12-STzVRIWZkPdAP4JQQXHBGWMD9QCMNtJHws130_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" .
}