@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY
> .
@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:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_head
{
this:
np:hasAssertion
dgn-np:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_assertion
;
np:hasProvenance
dgn-np:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_provenance
;
np:hasPublicationInfo
dgn-np:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_assertion
a
np:Assertion
.
dgn-np:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_provenance
a
np:Provenance
.
dgn-np:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN9ba70fa92aa9182ad0024e20c8ef88dc
sio:SIO_000628
miriam-gene:4204
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_provenance
{
dgn-np:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_assertion
dcterms:description
"[The finding of a significant number of copy number polymorphisms in the genome in the normal population, means that assigning pathogenicity to deletions and duplications in patients with mental retardation can be difficult but has been identified for duplications of MECP2 and L1CAM.]. 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:16987873
;
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:NP570297.RArlC-y_NPgDPHNpC1CKEYZqdZWAvsQ2Ui2uFnW_2y9MY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:03+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" .
}