@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE
> .
@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:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_head
{
this:
np:hasAssertion
dgn-np:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_assertion
;
np:hasProvenance
dgn-np:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_provenance
;
np:hasPublicationInfo
dgn-np:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_assertion
a
np:Assertion
.
dgn-np:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_provenance
a
np:Provenance
.
dgn-np:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_assertion
{
miriam-gene:2737
a
ncit:C16612
.
lld:C0265553
a
ncit:C7057
.
dgn-gda:DGN3ffc110262c3ba8bc8defc7b0a4ebede
sio:SIO_000628
miriam-gene:2737
,
lld:C0265553
;
a
sio:SIO_001121
.
}
dgn-np:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_provenance
{
dgn-np:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_assertion
dcterms:description
"[We report on the novel association of trigonocephaly and polysyndactyly in two unrelated patients due to mutations within the last third (exon 14) and first third (exon 6) of the GLI3 gene, respectively.]. 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:20583172
;
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:NP298997.RAOUD17O823s0CuZ06Ut0y_i5qhMl6x3_x48-3YkibiyE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:50+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" .
}