@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ
> .
@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:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_head
{
this:
np:hasAssertion
dgn-np:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_assertion
;
np:hasProvenance
dgn-np:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_assertion
a
np:Assertion
.
dgn-np:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_provenance
a
np:Provenance
.
dgn-np:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_assertion
{
miriam-gene:2200
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGN3e1f90709709a0e90f12484de8c4d4c3
sio:SIO_000628
miriam-gene:2200
,
lld:C0013336
;
a
sio:SIO_001121
.
}
dgn-np:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_provenance
{
dgn-np:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_assertion
dcterms:description
"[Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes.]. 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:21683322
;
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:NP279873.RAPFZy4cdqDajPPoZBg8XfOjcS_1DTYn0l-mmRHY9y-jQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:38+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" .
}