@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA
> .
@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/v3.0.0/void/
> .
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_head
{
this:
np:hasAssertion
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_assertion
;
np:hasProvenance
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_provenance
;
np:hasPublicationInfo
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_assertion
a
np:Assertion
.
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_provenance
a
np:Provenance
.
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_assertion
{
miriam-gene:80067
a
ncit:C16612
.
lld:C0393593
a
ncit:C7057
.
dgn-gda:DGNc307a7d7c9b6f67ca0bf58de065adb4b
sio:SIO_000628
miriam-gene:80067
,
lld:C0393593
;
a
sio:SIO_001121
.
}
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_provenance
{
dgn-np:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_assertion
dcterms:description
"[This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia.]. 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:20507343
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP947833.RADi30PVV-Q9LyIXMM79vJ4V0rDTwfwSV6_liasVkMFPA130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:18+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}