@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion
;
np:hasProvenance
dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance
;
np:hasPublicationInfo
dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion
a
np:Assertion
.
dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance
a
np:Provenance
.
dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion
{
miriam-gene:182
a
ncit:C16612
.
lld:C0796126
a
ncit:C7057
.
dgn-gda:DGN9b0c688301d2428105d320bea7be1054
sio:SIO_000628
miriam-gene:182
,
lld:C0796126
;
a
sio:SIO_001121
.
}
dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_provenance
{
dgn-np:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_assertion
dcterms:description
"[Since the phenotype of the patient with a complete deletion of the JAG1 gene is indistinguishable from that of patients with intragenic mutations, our study further supports the hypothesis that haploinsufficiency is the most common mechanism involved in AGS pathogenesis.]. 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:10533065
;
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:NP192959.RA0T9T5Gbs-fULhuCj4-ZaXyIrWsDdxlS_gMXpzI9R1KE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:46+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
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dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}