@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0
> .
@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:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_head
{
this:
np:hasAssertion
dgn-np:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_assertion
;
np:hasProvenance
dgn-np:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance
;
np:hasPublicationInfo
dgn-np:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_assertion
a
np:Assertion
.
dgn-np:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance
a
np:Provenance
.
dgn-np:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_assertion
{
miriam-gene:2967
a
ncit:C16612
.
lld:C1955934
a
ncit:C7057
.
dgn-gda:DGN40cb39586e6cb4f960f2a7c068889bb7
sio:SIO_000628
miriam-gene:2967
,
lld:C1955934
;
a
sio:SIO_001121
.
}
dgn-np:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance
{
dgn-np:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_assertion
dcterms:description
"[Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS.]. 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:14726016
;
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:NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:59+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" .
}