@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI
> .
@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:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_head
{
this:
np:hasAssertion
dgn-np:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_assertion
;
np:hasProvenance
dgn-np:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_provenance
;
np:hasPublicationInfo
dgn-np:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_assertion
a
np:Assertion
.
dgn-np:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_provenance
a
np:Provenance
.
dgn-np:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_assertion
{
miriam-gene:8200
a
ncit:C16612
.
lld:C1862103
a
ncit:C7057
.
dgn-gda:DGNae755c4554dc7df9201f0f7c471ca67b
sio:SIO_000628
miriam-gene:8200
,
lld:C1862103
;
a
sio:SIO_001121
.
}
dgn-np:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_provenance
{
dgn-np:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_assertion
dcterms:description
"[Our findings illustrate that nonpenetrance for the typical features of BDC can be appreciable and that atypical skeletal features that have been reported in some patients with BDC (i.e., clubfoot, short stature, spondylolysis) may also result from CDMP-1 mutation.]. 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:12567410
;
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:NP277227.RAe1C-i0ibO04CMmihS-9wrvxEX6YRG1Vz4qgUFyfaHmI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:36+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" .
}