@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0
> .
@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:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_head
{
this:
np:hasAssertion
dgn-np:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_assertion
;
np:hasProvenance
dgn-np:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_provenance
;
np:hasPublicationInfo
dgn-np:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_assertion
a
np:Assertion
.
dgn-np:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_provenance
a
np:Provenance
.
dgn-np:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0334482
a
ncit:C7057
.
dgn-gda:DGNc76e2c4edbc8b5538c676a390252a04f
sio:SIO_000628
miriam-gene:5727
,
lld:C0334482
;
a
sio:SIO_001121
.
}
dgn-np:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_provenance
{
dgn-np:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_assertion
dcterms:description
"[Four of nine informative fetal rhabdomyomas and embryonal rhabdomyosarcomas showed loss of heterozygosity (LOH) in the PTCH region with two of these (one fetal rhabdomyoma and one embryonal rhabdomyosarcoma) also showing LOH in the SUFU region.]. 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:16294371
;
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:NP818717.RA3iMVIr5WlUxQu-sK1_Tg7mg47J4pvBDUcFPDgF369O0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:21+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" .
}