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http://rdf.disgenet.org/resource/nanopub/NP323254.RA74NXOkHmsVTAAqmF0ym38ptsUGJaCS7YYCfMeT2VHYA
> .
@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/
> .
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{
this:
np:hasAssertion
dgn-np:NP323254.RA74NXOkHmsVTAAqmF0ym38ptsUGJaCS7YYCfMeT2VHYA130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP323254.RA74NXOkHmsVTAAqmF0ym38ptsUGJaCS7YYCfMeT2VHYA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP323254.RA74NXOkHmsVTAAqmF0ym38ptsUGJaCS7YYCfMeT2VHYA130_assertion
a
np:Assertion
.
dgn-np:NP323254.RA74NXOkHmsVTAAqmF0ym38ptsUGJaCS7YYCfMeT2VHYA130_provenance
a
np:Provenance
.
dgn-np:NP323254.RA74NXOkHmsVTAAqmF0ym38ptsUGJaCS7YYCfMeT2VHYA130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:2071
a
ncit:C16612
.
lld:C0220722
a
ncit:C7057
.
dgn-gda:DGN93cd0f439ee30b01922db872cff11791
sio:SIO_000628
miriam-gene:2071
,
lld:C0220722
;
a
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.
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dgn-np:NP323254.RA74NXOkHmsVTAAqmF0ym38ptsUGJaCS7YYCfMeT2VHYA130_provenance
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dgn-np:NP323254.RA74NXOkHmsVTAAqmF0ym38ptsUGJaCS7YYCfMeT2VHYA130_assertion
dcterms:description
"[We predict that future patients with COFS syndrome will be found to have mutations in the CSA or XPB genes, and we document successful use of DNA repair for prenatal diagnosis in triplet and singleton pregnancies at risk for COFS syndrome.]. 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:11443545
;
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 .
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dgn-np:NP323254.RA74NXOkHmsVTAAqmF0ym38ptsUGJaCS7YYCfMeT2VHYA130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
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;
pav:authoredBy
<
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> , <
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
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"v4.0.0" .
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