@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE
> .
@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:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_head
{
this:
np:hasAssertion
dgn-np:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion
;
np:hasProvenance
dgn-np:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_provenance
;
np:hasPublicationInfo
dgn-np:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion
a
np:Assertion
.
dgn-np:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_provenance
a
np:Provenance
.
dgn-np:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion
{
miriam-gene:6817
a
ncit:C16612
.
lld:C0008928
a
ncit:C7057
.
dgn-gda:DGN5da05fd828a9d405ea51dda0f6f6fb60
sio:SIO_000628
miriam-gene:6817
,
lld:C0008928
;
a
sio:SIO_001121
.
}
dgn-np:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_provenance
{
dgn-np:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_assertion
dcterms:description
"[Together these data show that variable loss of function due to alterations in the runt and PST domains of CBFA1 may give rise to clinical variability, including classic CCD, mild CCD and isolated primary dental anomalies.]. 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:10545612
;
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:NP516493.RA8Z9BRwE4G41RgYa5RKDSkPIfpIG2XNr_n2xUyv3mhNE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:07+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" .
}