@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU
> .
@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/v4.0.0/void/
> .
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_head
{
this:
np:hasAssertion
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_assertion
;
np:hasProvenance
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_provenance
;
np:hasPublicationInfo
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_assertion
a
np:Assertion
.
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_provenance
a
np:Provenance
.
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_assertion
{
miriam-gene:162514
a
ncit:C16612
.
lld:C0037274
a
ncit:C7057
.
dgn-gda:DGN010bda22a7328e3bf0f37994a6f08fc3
sio:SIO_000628
miriam-gene:162514
,
lld:C0037274
;
a
sio:SIO_001122
.
}
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_provenance
{
dgn-np:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP625846.RALPKohP6U1E8_Qr1LN-_8XDG06gVdB5c_FnDo1AhgqKU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:29+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}