@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY
> .
@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:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_head
{
this:
np:hasAssertion
dgn-np:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_assertion
;
np:hasProvenance
dgn-np:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_provenance
;
np:hasPublicationInfo
dgn-np:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_assertion
a
np:Assertion
.
dgn-np:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_provenance
a
np:Provenance
.
dgn-np:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_assertion
{
miriam-gene:26277
a
ncit:C16612
.
lld:C0030312
a
ncit:C7057
.
dgn-gda:DGNbfbf63da21adb09937bb07ca25d1daa5
sio:SIO_000628
miriam-gene:26277
,
lld:C0030312
;
a
sio:SIO_001121
.
}
dgn-np:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_provenance
{
dgn-np:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_assertion
dcterms:description
"[Among the 224 consecutive patients with different forms of bone marrow failure (46 with DC, 122 with aplastic anaemia and 57 with some features of DC), we have identified 16 new families with variants in exon 6 of the TINF2 gene, eight of which are novel.]. 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:21199492
;
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:NP862633.RAUFS-uq6H0GrTENNohJTcJF16qxNHqJikeU3Vy0YtFoY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:15+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" .
}