@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg
> .
@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:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_head
{
this:
np:hasAssertion
dgn-np:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_assertion
;
np:hasProvenance
dgn-np:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_provenance
;
np:hasPublicationInfo
dgn-np:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_assertion
a
np:Assertion
.
dgn-np:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_provenance
a
np:Provenance
.
dgn-np:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_assertion
{
miriam-gene:8575
a
ncit:C16612
.
lld:C0393593
a
ncit:C7057
.
dgn-gda:DGN19c7a665d777e4b940e33f82a3b270cb
sio:SIO_000628
miriam-gene:8575
,
lld:C0393593
;
a
sio:SIO_001121
.
}
dgn-np:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_provenance
{
dgn-np:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_assertion
dcterms:description
"[Because different mutations in the same gene can result in diverse phenotypes, we sequenced all coding exons of the DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 genes in 44 CRPS patients with fixed dystonia to investigate whether high-penetrant causal mutations play a role in CRPS.]. 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:20066431
;
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:NP786373.RAXfH4bfx4IOUcAkIzcfKf88yC-A-rp99I0I2R_n9uPwg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:41+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" .
}