@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E
> .
@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:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_head
{
this:
np:hasAssertion
dgn-np:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_assertion
;
np:hasProvenance
dgn-np:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_provenance
;
np:hasPublicationInfo
dgn-np:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_assertion
a
np:Assertion
.
dgn-np:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_provenance
a
np:Provenance
.
dgn-np:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_assertion
{
miriam-gene:2968
a
ncit:C16612
.
lld:C0268138
a
ncit:C7057
.
dgn-gda:DGN75a2ef34c7073fcf0df8d97b1a7783e4
sio:SIO_000628
miriam-gene:2968
,
lld:C0268138
;
a
sio:SIO_001121
.
}
dgn-np:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_provenance
{
dgn-np:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_assertion
dcterms:description
"[Indeed, this mutation not only affects the interaction with the MAT1 CAK subunit, thereby decreasing the in vitro basal transcription activity of TFIIH itself and impeding the efficient recruitment of the transcription machinery on the promoter of an activated gene, but also impairs the DNA unwinding activity of XPD and the nucleotide excision repair activity of TFIIH.]. 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:23382212
;
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:NP383725.RA3ANX-hxy4f6nDNTQ1qlSSO1FpczmA7cpR6kB7a7OQ6E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:48+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" .
}