@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U
> .
@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:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_head
{
this:
np:hasAssertion
dgn-np:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_assertion
;
np:hasProvenance
dgn-np:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_provenance
;
np:hasPublicationInfo
dgn-np:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_assertion
a
np:Assertion
.
dgn-np:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_provenance
a
np:Provenance
.
dgn-np:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_assertion
{
miriam-gene:4744
a
ncit:C16612
.
lld:C0684337
a
ncit:C7057
.
dgn-gda:DGN9003533251347a142f50eef595338294
sio:SIO_000628
miriam-gene:4744
,
lld:C0684337
;
a
sio:SIO_001121
.
}
dgn-np:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_provenance
{
dgn-np:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_assertion
dcterms:description
"[FISH analysis confirmed a disease-associated germinal deletion on 22q which encompassed the NEFH locus, which is known to be very closely linked to NF2, but did not extend as far as the proximal Ewing sarcoma region or the distal leukaemia factor (LIF) locus.]. 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:8102569
;
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:NP637038.RA2okvMdMy_nmTZX6onnWYoFUZlHdrnW8Skhe9GRrRz9U130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:24+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" .
}