@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc
> .
@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:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_head
{
this:
np:hasAssertion
dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_assertion
;
np:hasProvenance
dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_provenance
;
np:hasPublicationInfo
dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_assertion
a
np:Assertion
.
dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_provenance
a
np:Provenance
.
dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_assertion
{
miriam-gene:162514
a
ncit:C16612
.
lld:C0037274
a
ncit:C7057
.
dgn-gda:DGNd38fae0b585569dfe4c2d8e067183c4a
sio:SIO_000628
miriam-gene:162514
,
lld:C0037274
;
a
sio:SIO_001121
.
}
dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_provenance
{
dgn-np:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_assertion
dcterms:description
"[However, point mutations of TRPV3 at Gly573 to Ser and Cys have recently been linked to autosomal dominant hairless phenotypes and spontaneous dermatitis in mice and rats, implicating an important role for TRPV3 in alopecia and skin diseases.]. 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:17706768
;
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:NP892051.RAtPhL6WXAkbLOWTP8sMUuTFUNfPdgPU_vpOtx9ZGEdMc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:08+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" .
}