@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU
> .
@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:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_head
{
this:
np:hasAssertion
dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_assertion
;
np:hasProvenance
dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_provenance
;
np:hasPublicationInfo
dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_assertion
a
np:Assertion
.
dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_provenance
a
np:Provenance
.
dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_assertion
{
miriam-gene:4920
a
ncit:C16612
.
lld:C0431863
a
ncit:C7057
.
dgn-gda:DGN8b9949187b043222f58119bfd8a82958
sio:SIO_000628
miriam-gene:4920
,
lld:C0431863
;
a
sio:SIO_001121
.
}
dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_provenance
{
dgn-np:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_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-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:NP480207.RAHfSLyVzEpy59V_HuqVpIFhWrExfLa8z9XcW9spW3FrU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:47+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" .
}