@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g
> .
@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:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_head
{
this:
np:hasAssertion
dgn-np:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_assertion
;
np:hasProvenance
dgn-np:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance
;
np:hasPublicationInfo
dgn-np:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_assertion
a
np:Assertion
.
dgn-np:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance
a
np:Provenance
.
dgn-np:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_assertion
{
miriam-gene:59341
a
ncit:C16612
.
lld:C0031117
a
ncit:C7057
.
dgn-gda:DGNb0348132898accddb9ac0b8b80bc4613
sio:SIO_000628
miriam-gene:59341
,
lld:C0031117
;
a
sio:SIO_001121
.
}
dgn-np:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_provenance
{
dgn-np:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_assertion
dcterms:description
"[Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe 'overlap' phenotype.]. 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:21964829
;
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:NP935111.RAKa39JIDN7udar8zFUEH3EhmYqqBZXiw-EEu2AK4ty7g130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:11+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" .
}