@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo
> .
@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:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_head
{
this:
np:hasAssertion
dgn-np:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_assertion
;
np:hasProvenance
dgn-np:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_provenance
;
np:hasPublicationInfo
dgn-np:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_assertion
a
np:Assertion
.
dgn-np:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_provenance
a
np:Provenance
.
dgn-np:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_assertion
{
miriam-gene:284403
a
ncit:C16612
.
lld:C1956147
a
ncit:C7057
.
dgn-gda:DGN438bed8bd41c5068b3da9bb33b7ff6ed
sio:SIO_000628
miriam-gene:284403
,
lld:C1956147
;
a
sio:SIO_001121
.
}
dgn-np:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_provenance
{
dgn-np:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_assertion
dcterms:description
"[Sequencing of a cohort of five patients with WDR62 mutations, including one with an identical mutation and different phenotype, plus 12 individuals with diagnosis of microlissencephaly and another individual with mild intellectual disability (ID) and a 17q25 duplication, did not reveal TBCD mutations.]. 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:24842779
;
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:NP1183944.RAq_2ZeUbnO4BdavLuJIKkmfQ0h93BV3Zgn_SrHqv2Kxo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:42+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" .
}