@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls
> .
@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/v3.0.0/void/
> .
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_head
{
this:
np:hasAssertion
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_assertion
;
np:hasProvenance
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_provenance
;
np:hasPublicationInfo
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_assertion
a
np:Assertion
.
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_provenance
a
np:Provenance
.
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_assertion
{
miriam-gene:10733
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGNcb5e46096c7ca60ae88f23623dc8a530
sio:SIO_000628
miriam-gene:10733
,
lld:C0013336
;
a
sio:SIO_001121
.
}
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_provenance
{
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_assertion
dcterms:description
"[Here we identify mutations in the genes encoding PLK4 kinase, a master regulator of centriole duplication, and its substrate TUBGCP6 in individuals with microcephalic primordial dwarfism and additional congenital anomalies, including retinopathy, thereby extending the human phenotypic spectrum associated with centriole dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:25344692
;
prov:wasDerivedFrom
dgn-void:ctd_human-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:55+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}