@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc
> .
@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:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_head
{
this:
np:hasAssertion
dgn-np:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_assertion
;
np:hasProvenance
dgn-np:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_provenance
;
np:hasPublicationInfo
dgn-np:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_assertion
a
np:Assertion
.
dgn-np:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_provenance
a
np:Provenance
.
dgn-np:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_assertion
{
miriam-gene:162514
a
ncit:C16612
.
lld:C0011603
a
ncit:C7057
.
dgn-gda:DGN6e76456316c23511d88644f09a7e6715
sio:SIO_000628
miriam-gene:162514
,
lld:C0011603
;
a
sio:SIO_001121
.
}
dgn-np:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_provenance
{
dgn-np:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_assertion
dcterms:description
"[We conclude that the G573S and G573C substitutions render the TRPV3 channel spontaneously active under normal physiological conditions, which in turn alters ion homeostasis and membrane potentials of skin keratinocytes, leading to hair loss and dermatitis-like 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:NP186184.RAP0vciLsVzpC_ltMIWAr6bvEBWlhj3NJtVob1KU5lFkc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:42+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" .
}