@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM
> .
@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:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_head
{
this:
np:hasAssertion
dgn-np:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_assertion
;
np:hasProvenance
dgn-np:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_provenance
;
np:hasPublicationInfo
dgn-np:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_assertion
a
np:Assertion
.
dgn-np:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_provenance
a
np:Provenance
.
dgn-np:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_assertion
{
miriam-gene:9839
a
ncit:C16612
.
lld:C0268390
a
ncit:C7057
.
dgn-gda:DGN887f0d4b8a7502516085ba334214fee6
sio:SIO_000628
miriam-gene:9839
,
lld:C0268390
;
a
sio:SIO_001121
.
}
dgn-np:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_provenance
{
dgn-np:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_assertion
dcterms:description
"[Over 100 mutations have been described in patients with clinically typical MWS, who almost always have whole gene deletions or truncating mutations (nonsense or frameshift) of ZFHX1B, suggesting that haploinsufficiency is the basis of MWS pathology.]. 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:17203459
;
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:NP500266.RA9TGEtN5SStjH3o7zWL36NXL0AjFlruyAu8reYvKEXaM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:58+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" .
}