@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw
> .
@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:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_head
{
this:
np:hasAssertion
dgn-np:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_assertion
;
np:hasProvenance
dgn-np:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_provenance
;
np:hasPublicationInfo
dgn-np:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_assertion
a
np:Assertion
.
dgn-np:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_provenance
a
np:Provenance
.
dgn-np:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_assertion
{
miriam-gene:5077
a
ncit:C16612
.
lld:C3266898
a
ncit:C7057
.
dgn-gda:DGN8018f3c05bb5b43d7ecaa2eb08e812bb
sio:SIO_000628
miriam-gene:5077
,
lld:C3266898
;
a
sio:SIO_001121
.
}
dgn-np:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_provenance
{
dgn-np:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_assertion
dcterms:description
"[While heterozygosity for point mutations or deletions of PAX3 lead to similar manifestations (Waardenburg syndrome), in homozygotes the phenotype is much more severe, probably in direct relation to the loss of function.]. 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:9021013
;
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:NP1366833.RAuxqmDrtJFj41QWMeNNeqc7SUyuJO8PZmqiPudynylVw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:05+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" .
}