@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs
> .
@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:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_head
{
this:
np:hasAssertion
dgn-np:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion
;
np:hasProvenance
dgn-np:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_provenance
;
np:hasPublicationInfo
dgn-np:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion
a
np:Assertion
.
dgn-np:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_provenance
a
np:Provenance
.
dgn-np:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_assertion
{
miriam-gene:59341
a
ncit:C16612
.
lld:C0410528
a
ncit:C7057
.
dgn-gda:DGN082bf65a9dbf685f9e024d2d001794a1
sio:SIO_000628
miriam-gene:59341
,
lld:C0410528
;
a
sio:SIO_001121
.
}
dgn-np:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_provenance
{
dgn-np:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_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-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:NP693739.RA0s8KvJBaE4sz2tL6YtGstCatQwUKkJHmr5lWpV7pAIs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:01+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" .
}