@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU
> .
@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:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_head
{
this:
np:hasAssertion
dgn-np:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_assertion
;
np:hasProvenance
dgn-np:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_provenance
;
np:hasPublicationInfo
dgn-np:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_assertion
a
np:Assertion
.
dgn-np:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_provenance
a
np:Provenance
.
dgn-np:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_assertion
{
miriam-gene:10743
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGNe9873603e765bcb532117fcb3e539587
sio:SIO_000628
miriam-gene:10743
,
lld:C0013336
;
a
sio:SIO_001121
.
}
dgn-np:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_provenance
{
dgn-np:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_assertion
dcterms:description
"[Haploinsufficiency of one of them, RAI1, seems to be responsible for the neurobehavioural, craniofacial and otolaryngological features of the syndrome, but not for short stature, commonly seen in SMS patients with chromosome deletion, implying the role of other genes in the 17p11.2 region.]. 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:15138811
;
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:NP700458.RA-1z3at1NlQrN0krV25MGuxC6e1FhJQY0exUTeNuknGU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:06+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
pav:version
"v2.1.0" .
}