@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg
> .
@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:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_head
{
this:
np:hasAssertion
dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_assertion
;
np:hasProvenance
dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_provenance
;
np:hasPublicationInfo
dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_assertion
a
np:Assertion
.
dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_provenance
a
np:Provenance
.
dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C0079541
a
ncit:C7057
.
dgn-gda:DGNa692ebf4613903ce754c2896bf9a429f
sio:SIO_000628
miriam-gene:6469
,
lld:C0079541
;
a
sio:SIO_001121
.
}
dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_provenance
{
dgn-np:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_assertion
dcterms:description
"[The sample included patients without detected mutations in some HPE determinant genes such as SHH, GLI2, SIX3, TGIF, and PTCH, as well as the photographic documentation of the previously reported patients in our Center.]. 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:20104612
;
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:NP789801.RAhuDQwZnRZR1kbNZ9CBXPYmYBeb5iYFSRCTtdQCmvZBg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:43+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" .
}