@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU
> .
@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/v3.0.0/void/
> .
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_head
{
this:
np:hasAssertion
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_assertion
;
np:hasProvenance
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_provenance
;
np:hasPublicationInfo
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_assertion
a
np:Assertion
.
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_provenance
a
np:Provenance
.
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_assertion
{
miriam-gene:114791
a
ncit:C16612
.
lld:C0233715
a
ncit:C7057
.
dgn-gda:DGNb57ac2c0df9d5bcc2c19a3355c73e369
sio:SIO_000628
miriam-gene:114791
,
lld:C0233715
;
a
sio:SIO_001121
.
}
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_provenance
{
dgn-np:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_assertion
dcterms:description
"[Our data suggest that gene deletions (NIPA1, NIPA2, CYF1P1, GCP5) mapped to the region between breakpoints BP1 and BP2 may be involved in the severity of speech impairment, since all BP1-BP3 deletion patients showed complete absence of vocalization, while 38.1% of the BP2-BP3 deletion patients were able to pronounce syllabic sounds, with doubtful meaning.]. 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:15470370
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP965214.RACGmCIW1OFEPWv71n42HFE8bIrF7imvEZouUj9cUSKIU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:29+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}