@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM
> .
@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:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_head
{
this:
np:hasAssertion
dgn-np:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_assertion
;
np:hasProvenance
dgn-np:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_provenance
;
np:hasPublicationInfo
dgn-np:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_assertion
a
np:Assertion
.
dgn-np:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_provenance
a
np:Provenance
.
dgn-np:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_assertion
{
miriam-gene:2966
a
ncit:C16612
.
lld:C0263490
a
ncit:C7057
.
dgn-gda:DGNd3854cbe11908036cb63b87023efd60f
sio:SIO_000628
miriam-gene:2966
,
lld:C0263490
;
a
sio:SIO_001121
.
}
dgn-np:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_provenance
{
dgn-np:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_assertion
dcterms:description
"[The observations made by clinicians close to XP, TTD and CS patients, suggested that transcription defects responsible for brittle hair and nails for TTD, or developmental abnormalities for CS, resulted from TFIIH mutations.]. 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:11412842
;
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:NP467242.RALp9F-QbQJHSc-QxNQYvzuM3VaVWjHBi_gsxxDLYhnGM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:40+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" .
}