@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ
> .
@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:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_head
{
this:
np:hasAssertion
dgn-np:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_assertion
;
np:hasProvenance
dgn-np:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_assertion
a
np:Assertion
.
dgn-np:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_provenance
a
np:Provenance
.
dgn-np:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_assertion
{
miriam-gene:23708
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNbbeb746175a23a125265c2525c11efc8
sio:SIO_000628
miriam-gene:23708
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_provenance
{
dgn-np:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_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:NP720228.RAIR8uyxv4OZH3_c5uCF4g6mEGy1NOBHenucw049CQ0SQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:17+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
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"v2.1.0" .
}