@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU
> .
@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:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_head
{
this:
np:hasAssertion
dgn-np:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_assertion
;
np:hasProvenance
dgn-np:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_assertion
a
np:Assertion
.
dgn-np:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_provenance
a
np:Provenance
.
dgn-np:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_assertion
{
miriam-gene:6804
a
ncit:C16612
.
lld:C0175702
a
ncit:C7057
.
dgn-gda:DGN3b68131e198cbe37d1e229521f7797a7
sio:SIO_000628
miriam-gene:6804
,
lld:C0175702
;
a
sio:SIO_001121
.
}
dgn-np:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_provenance
{
dgn-np:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_assertion
dcterms:description
"[Our results suggest that neither LIMK1 hemizygosity (contrary to a previous report) nor STX1A hemizygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes.]. 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:9915950
;
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:NP1413272.RAKsyrvuDf0EQSIM6k0X8jKI3jXBYUT5Os0UD0SlulnhU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:27+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" .
}