@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY
> .
@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:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_head
{
this:
np:hasAssertion
dgn-np:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_assertion
;
np:hasProvenance
dgn-np:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_provenance
;
np:hasPublicationInfo
dgn-np:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_assertion
a
np:Assertion
.
dgn-np:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_provenance
a
np:Provenance
.
dgn-np:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_assertion
{
miriam-gene:2200
a
ncit:C16612
.
lld:C0009782
a
ncit:C7057
.
dgn-gda:DGN00cfff57b1faa43f41fa53ab55b3c12c
sio:SIO_000628
miriam-gene:2200
,
lld:C0009782
;
a
sio:SIO_001121
.
}
dgn-np:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_provenance
{
dgn-np:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_assertion
dcterms:description
"[Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome.]. 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:9401003
;
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:NP346492.RAFlKUPHAZ8VXHhRt25CxeIroO_ThdPEzmuY8Jbed8MMY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:23+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" .
}