@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY
> .
@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:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_head
{
this:
np:hasAssertion
dgn-np:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_assertion
;
np:hasProvenance
dgn-np:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_provenance
;
np:hasPublicationInfo
dgn-np:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_assertion
a
np:Assertion
.
dgn-np:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_provenance
a
np:Provenance
.
dgn-np:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0010709
a
ncit:C7057
.
dgn-gda:DGNcbaada63f213bc9227722d2c64d8bd58
sio:SIO_000628
miriam-gene:5727
,
lld:C0010709
;
a
sio:SIO_001121
.
}
dgn-np:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_provenance
{
dgn-np:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_assertion
dcterms:description
"[Although about 25% of cysts demonstrated LOH at the PTCH1 locus, no nonsense or missense mutations in the coding region of PTCH1 were detected in genomic DNA isolated from any of the ODCs examined by direct sequencing.]. 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:15492847
;
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:NP564716.RA2pM8WDhOhleOBZGNo6KSc6xBFYEJEQfJxINAPBJG2NY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:40+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" .
}