@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE
> .
@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/v3.0.0/void/
> .
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_head
{
this:
np:hasAssertion
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion
;
np:hasProvenance
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_provenance
;
np:hasPublicationInfo
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion
a
np:Assertion
.
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_provenance
a
np:Provenance
.
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion
{
miriam-gene:9241
a
ncit:C16612
.
lld:C0431863
a
ncit:C7057
.
dgn-gda:DGNce6a3e61fdc404c2fa57b1350f47b6a6
sio:SIO_000628
miriam-gene:9241
,
lld:C0431863
;
a
sio:SIO_001122
.
}
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_provenance
{
dgn-np:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_assertion
dcterms:description
"[In a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).]. 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:17668388
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP818726.RAeGV8U_LesWQ1Le5yQDKRex9zwzCz8ASLaky8f2MIOaE130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:56+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}