@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_head
{
this:
np:hasAssertion
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_assertion
;
np:hasProvenance
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_provenance
;
np:hasPublicationInfo
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_assertion
a
np:Assertion
.
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_provenance
a
np:Provenance
.
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0004779
a
ncit:C7057
.
dgn-gda:DGN8dd5d3ce3ac075d4dd4e7473fad61403
sio:SIO_000628
miriam-gene:5727
,
lld:C0004779
;
a
sio:SIO_001122
.
}
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_provenance
{
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_assertion
dcterms:description
"[In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:8981943
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP9263.RAAU3raxbdo7NbD_lVi1SaA6YkteY7uE4uXVVFzOpPauo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:53+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}