@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0
> .
@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:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_head
{
this:
np:hasAssertion
dgn-np:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_assertion
;
np:hasProvenance
dgn-np:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_provenance
;
np:hasPublicationInfo
dgn-np:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_assertion
a
np:Assertion
.
dgn-np:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_provenance
a
np:Provenance
.
dgn-np:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_assertion
{
miriam-gene:7012
a
ncit:C16612
.
lld:C0002874
a
ncit:C7057
.
dgn-gda:DGNe1bc685b08a657319a4af2dbae8c8eb3
sio:SIO_000628
miriam-gene:7012
,
lld:C0002874
;
a
sio:SIO_001121
.
}
dgn-np:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_provenance
{
dgn-np:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_assertion
dcterms:description
"[Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that telomerase function is defective and that this is associated with short telomeres.]. 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:17640862
;
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:NP278866.RAAKd__vmFCj22KyVVXm3rI8gCXWt-KQBChuLcPf29PG0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:37+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" .
}