@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs
> .
@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:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_head
{
this:
np:hasAssertion
dgn-np:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_assertion
;
np:hasProvenance
dgn-np:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_provenance
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np:hasPublicationInfo
dgn-np:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_assertion
a
np:Assertion
.
dgn-np:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_provenance
a
np:Provenance
.
dgn-np:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_assertion
{
miriam-gene:25
a
ncit:C16612
.
lld:C0041341
a
ncit:C7057
.
dgn-gda:DGNe425326a9d6b911751998e85434a17a0
sio:SIO_000628
miriam-gene:25
,
lld:C0041341
;
a
sio:SIO_001121
.
}
dgn-np:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_provenance
{
dgn-np:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_assertion
dcterms:description
"[The question of genetic heterogeneity in tuberous sclerosis (TSC) was addressed by genetic linkage studies in eight affected families using nine polymorphic markers (EFD126.3, MCT136, ABO, ABL, AK1, and MCOA12 from distal 9q, and PBGD, MCT128.1, and 1CJ52.208M from distal 11q).]. 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:2769723
;
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:NP253714.RAYtz5QuHZHJcrmwKqwWjM2MhlJ2bax63SDq47R1aCVcs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:22+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" .
}