@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o
> .
@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:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_head
{
this:
np:hasAssertion
dgn-np:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_assertion
;
np:hasProvenance
dgn-np:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_provenance
;
np:hasPublicationInfo
dgn-np:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_assertion
a
np:Assertion
.
dgn-np:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_provenance
a
np:Provenance
.
dgn-np:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_assertion
{
miriam-gene:4763
a
ncit:C16612
.
lld:C0026499
a
ncit:C7057
.
dgn-gda:DGNee5f631122789baaca1a4f52e8d912e8
sio:SIO_000628
miriam-gene:4763
,
lld:C0026499
;
a
sio:SIO_001121
.
}
dgn-np:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_provenance
{
dgn-np:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_assertion
dcterms:description
"[The second was an unbalanced rearrangement between chromosomes 1 and 16, leading to partial trisomy for the long arm of chromosome 1 and partial monosomy for the long arm of chromosome 16. Review of previous reports on chromosomal abnormalities in malignant triton tumors revealed consistent abnormalities involving chromosome 1, regardless of the presence or absence of neurofibromatosis.]. 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:15104279
;
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:NP441958.RAxjvwspGv-gZja672ock0peek313oM5-Xp-TFoRZCl3o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:21+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" .
}