@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_head
{
this:
np:hasAssertion
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_assertion
;
np:hasProvenance
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_provenance
;
np:hasPublicationInfo
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_assertion
a
np:Assertion
.
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_provenance
a
np:Provenance
.
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_assertion
{
miriam-gene:7291
a
ncit:C16612
.
lld:C0175699
a
ncit:C7057
.
dgn-gda:DGNe4e857477b61788c06fd7a8303cae7c6
sio:SIO_000628
miriam-gene:7291
,
lld:C0175699
;
a
sio:SIO_001121
.
}
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_provenance
{
dgn-np:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_assertion
dcterms:description
"[To date, more than 80 different mutations in TWIST have been reported in the literature.Recently, large deletions of chromosome 7p, encompassing the TWIST locus, have been detected in patients with clinical features of Saethre-Chotzen 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:15547403
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP469190.RAjblqKEaUSpNmn1FpC8d6-0y258N2wJWdvGMEG164-7E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:17+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}