@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g
> .
@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:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_head
{
this:
np:hasAssertion
dgn-np:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_assertion
;
np:hasProvenance
dgn-np:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_provenance
;
np:hasPublicationInfo
dgn-np:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_assertion
a
np:Assertion
.
dgn-np:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_provenance
a
np:Provenance
.
dgn-np:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0004779
a
ncit:C7057
.
dgn-gda:DGN331837444a792c8d8fb7c9e7249bfc89
sio:SIO_000628
miriam-gene:5727
,
lld:C0004779
;
a
sio:SIO_001121
.
}
dgn-np:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_provenance
{
dgn-np:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_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_literature
;
sio:SIO_000772
miriam-pubmed:8981943
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1365004.RAV23yRAbzPjNu0xj0dEo_P4HewnqeEj0wSmTZ8Ek2S5g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:04+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" .
}