@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs
> .
@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:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_head
{
this:
np:hasAssertion
dgn-np:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_assertion
;
np:hasProvenance
dgn-np:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_provenance
;
np:hasPublicationInfo
dgn-np:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_assertion
a
np:Assertion
.
dgn-np:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_provenance
a
np:Provenance
.
dgn-np:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C0041107
a
ncit:C7057
.
dgn-gda:DGNfbde5ca813cac501f325f2e8b2ee3d53
sio:SIO_000628
miriam-gene:6469
,
lld:C0041107
;
a
sio:SIO_001121
.
}
dgn-np:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_provenance
{
dgn-np:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_assertion
dcterms:description
"[Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the 'trisomy of distal 7q' syndrome.]. 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:12868476
;
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:NP693415.RA0lVt-6Coqntl3n9hjZGXDZjD0Wfq0JruPQXHw5V-pRs130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:38+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" .
}