@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU
> .
@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:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_head
{
this:
np:hasAssertion
dgn-np:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_assertion
a
np:Assertion
.
dgn-np:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_provenance
a
np:Provenance
.
dgn-np:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_assertion
{
miriam-gene:6925
a
ncit:C16612
.
lld:C0036857
a
ncit:C7057
.
dgn-gda:DGNa6c51a70406773d33890cb18782b9105
sio:SIO_000628
miriam-gene:6925
,
lld:C0036857
;
a
sio:SIO_001121
.
}
dgn-np:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_provenance
{
dgn-np:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_assertion
dcterms:description
"[Sequencing of the TCF4 transcription factor gene, which is contained in the deletion region, in 30 patients with significant phenotypic overlap revealed heterozygous stop, splice, and missense mutations in five further patients with severe mental retardation and remarkable facial resemblance.]. 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:17436255
;
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:NP604694.RAKxNkg283Bh7RwIahzDav3e-zXqCMM4eWPeABCBonQEU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:19+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
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;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
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> , <
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" .
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pav:version
"v4.0.0" .
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