@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek
> .
@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:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_head
{
this:
np:hasAssertion
dgn-np:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_assertion
;
np:hasProvenance
dgn-np:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_provenance
;
np:hasPublicationInfo
dgn-np:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_assertion
a
np:Assertion
.
dgn-np:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_provenance
a
np:Provenance
.
dgn-np:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_assertion
{
miriam-gene:860
a
ncit:C16612
.
lld:C2678504
a
ncit:C7057
.
dgn-gda:DGN5ab841e8abf16504279b0f0c43fecf66
sio:SIO_000628
miriam-gene:860
,
lld:C2678504
;
a
sio:SIO_001121
.
}
dgn-np:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_provenance
{
dgn-np:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_assertion
dcterms:description
"[In addition, one patient with severe CCD and a frameshift mutation in codon 402 had osteoporosis leading to recurrent bone fractures and scoliosis, providing first evidence that CBFA1 may help maintain adult bone, in addition to its function in bone development.]. 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:10521292
;
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:NP841124.RASMaf8iP1XI2NPy8cDj5urS5oPrB5svyo7k3UFA8k6Ek130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:34+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" .
}