@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ
> .
@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:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_head
{
this:
np:hasAssertion
dgn-np:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_assertion
;
np:hasProvenance
dgn-np:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_assertion
a
np:Assertion
.
dgn-np:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_provenance
a
np:Provenance
.
dgn-np:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_assertion
{
miriam-gene:59341
a
ncit:C16612
.
lld:C0265280
a
ncit:C7057
.
dgn-gda:DGN671bfe55f0614b92a64a9d8754b3d75d
sio:SIO_000628
miriam-gene:59341
,
lld:C0265280
;
a
sio:SIO_001121
.
}
dgn-np:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_provenance
{
dgn-np:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_assertion
dcterms:description
"[We propose that AD brachyolmia lies at the mildest end of this spectrum and, since all cases described with this diagnosis and TRPV4 mutations display metaphyseal changes, we suggest that it is not a distinct entity but represents the mildest phenotypic expression of SMDK.]. 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:21658220
;
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:NP875257.RAUoYaN2_U7oahCAYmRlpkdzo9zMpDqnoE2aL35Me-tpQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:55+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" .
}