@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I
> .
@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:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_head
{
this:
np:hasAssertion
dgn-np:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_assertion
;
np:hasProvenance
dgn-np:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_provenance
;
np:hasPublicationInfo
dgn-np:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_assertion
a
np:Assertion
.
dgn-np:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_provenance
a
np:Provenance
.
dgn-np:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0085215
a
ncit:C7057
.
dgn-gda:DGN7cd929f209a047b11f91ac2f851bcc9c
sio:SIO_000628
miriam-gene:6473
,
lld:C0085215
;
a
sio:SIO_001121
.
}
dgn-np:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_provenance
{
dgn-np:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_assertion
dcterms:description
"[The case also highlights the importance of karyotyping for differentiating LWD and TS, especially in patients with findings such as premature ovarian failure or aortic abnormalities not associated with isolated SHOX haploinsufficiency.]. 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:11503163
;
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:NP310754.RA2aWlAmDa41OYu--aaTJQLq-O8rDbxfJ0fAv0iYWIN4I130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:58+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" .
}