@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc
> .
@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:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_head
{
this:
np:hasAssertion
dgn-np:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_assertion
;
np:hasProvenance
dgn-np:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_provenance
;
np:hasPublicationInfo
dgn-np:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_assertion
a
np:Assertion
.
dgn-np:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_provenance
a
np:Provenance
.
dgn-np:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_assertion
{
miriam-gene:2200
a
ncit:C16612
.
lld:C2746069
a
ncit:C7057
.
dgn-gda:DGN13f44d5016f90f046ed3213a26ed2cf2
sio:SIO_000628
miriam-gene:2200
,
lld:C2746069
;
a
sio:SIO_001121
.
}
dgn-np:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_provenance
{
dgn-np:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_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:NP803970.RAy98sbTHFK8uBR24ZbFJk_t3CAwqs7by6HocaVqv9_Gc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:13+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" .
}