@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI
> .
@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:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_head
{
this:
np:hasAssertion
dgn-np:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_assertion
;
np:hasProvenance
dgn-np:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_provenance
;
np:hasPublicationInfo
dgn-np:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_assertion
a
np:Assertion
.
dgn-np:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_provenance
a
np:Provenance
.
dgn-np:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_assertion
{
miriam-gene:2006
a
ncit:C16612
.
lld:C0007222
a
ncit:C7057
.
dgn-gda:DGN51a642674f82f0bef61edf002edc50d4
sio:SIO_000628
miriam-gene:2006
,
lld:C0007222
;
a
sio:SIO_001121
.
}
dgn-np:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_provenance
{
dgn-np:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_assertion
dcterms:description
"[This study demonstrates complete penetrance with extremely variable expression in this family with autosomal dominant supravalvular aortic stenosis and emphasizes the importance of using echocardiographic techniques in studying the family members who are suspected of having an inherited cardiovascular disease.]. 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:2913119
;
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:NP628740.RAX0dywyW3J0WAr6HgUW3429-SImRM3mmcvo85W_Lr5oI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:19+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" .
}