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http://rdf.disgenet.org/nanopublications.trig#NP341029.RAMxqVZfPsUcbtfJtMvfX9O66Op3ilg1n9HOOmRvoCbtE
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
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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:NP341029.RAMxqVZfPsUcbtfJtMvfX9O66Op3ilg1n9HOOmRvoCbtE130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
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dgn-np:NP341029.RAMxqVZfPsUcbtfJtMvfX9O66Op3ilg1n9HOOmRvoCbtE130_assertion
a
np:Assertion
.
dgn-np:NP341029.RAMxqVZfPsUcbtfJtMvfX9O66Op3ilg1n9HOOmRvoCbtE130_provenance
a
np:Provenance
.
dgn-np:NP341029.RAMxqVZfPsUcbtfJtMvfX9O66Op3ilg1n9HOOmRvoCbtE130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP341029.RAMxqVZfPsUcbtfJtMvfX9O66Op3ilg1n9HOOmRvoCbtE130_assertion
{
miriam-gene:139411
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN4d38e66e8c621ef685378534d3359a40
sio:SIO_000628
miriam-gene:139411
,
lld:C0025362
;
a
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.
}
dgn-np:NP341029.RAMxqVZfPsUcbtfJtMvfX9O66Op3ilg1n9HOOmRvoCbtE130_provenance
{
dgn-np:NP341029.RAMxqVZfPsUcbtfJtMvfX9O66Op3ilg1n9HOOmRvoCbtE130_assertion
dcterms:description
"[Fine-scale analysis of rare variants in XLID families leads us to propose four additional genes, PTCHD1, WDR13, FAAH2, and GSPT2, as candidates for XLID causation and the identification of further deletions and duplications affecting X chromosome genes but without apparent disease consequences.]. 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:20655035
;
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:NP341029.RAMxqVZfPsUcbtfJtMvfX9O66Op3ilg1n9HOOmRvoCbtE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:20+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
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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
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}