@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM
> .
@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:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_head
{
this:
np:hasAssertion
dgn-np:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_assertion
;
np:hasProvenance
dgn-np:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_provenance
;
np:hasPublicationInfo
dgn-np:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_assertion
a
np:Assertion
.
dgn-np:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_provenance
a
np:Provenance
.
dgn-np:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_assertion
{
miriam-gene:55835
a
ncit:C16612
.
lld:C0342573
a
ncit:C7057
.
dgn-gda:DGNce99cfb3d73d950ce0ad1bffa5be59e2
sio:SIO_000628
miriam-gene:55835
,
lld:C0342573
;
a
sio:SIO_001121
.
}
dgn-np:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_provenance
{
dgn-np:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_assertion
dcterms:description
"[CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD.]. 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:20522431
;
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:NP657152.RA0p8STyv2Z7iD8FbcShjbsL9uIMOymZ84EGJxxR0-5ZM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:35+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" .
}