@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE
> .
@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:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_head
{
this:
np:hasAssertion
dgn-np:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_assertion
;
np:hasProvenance
dgn-np:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_provenance
;
np:hasPublicationInfo
dgn-np:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_assertion
a
np:Assertion
.
dgn-np:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_provenance
a
np:Provenance
.
dgn-np:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_assertion
{
miriam-gene:3982
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGN48d1cb99bef4c50fe296d9947a63231c
sio:SIO_000628
miriam-gene:3982
,
lld:C0086543
;
a
sio:SIO_001121
.
}
dgn-np:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_provenance
{
dgn-np:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_assertion
dcterms:description
"[Although the role of the four studied genes: PAX6, PITX3, HSF4 and LIM2 in both ocular and central nervous system development, we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, MR and microcephaly.]. 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:22103961
;
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:NP199223.RAodQv0J_YQr9KUlhCN2iPbuLbdGvvuqs5hQo2Srqz_EE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:50+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" .
}