@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0
> .
@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:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_head
{
this:
np:hasAssertion
dgn-np:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_assertion
;
np:hasProvenance
dgn-np:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_provenance
;
np:hasPublicationInfo
dgn-np:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_assertion
a
np:Assertion
.
dgn-np:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_provenance
a
np:Provenance
.
dgn-np:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_assertion
{
miriam-gene:2006
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGNa625e47ebe10d702cd8fdc74b2bbc40e
sio:SIO_000628
miriam-gene:2006
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_provenance
{
dgn-np:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_assertion
dcterms:description
"[The relation between Marfan syndrome and fibrillin mutations and that between supravalvular aortic stenosis and William syndromes and elastin mutations are reviewed, as is the presence of microdeletions in 22q11 in DiGeorge syndrome, velocardiofacial syndrome, and nonsyndromic patients with conotruncal malformations.]. 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:7911041
;
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:NP371088.RAeqWUtinai2nM2aB5JXRlrT8lEoaPj3km9SQ1T6rfeP0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:37+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" .
}