@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE
> .
@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:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_head
{
this:
np:hasAssertion
dgn-np:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_assertion
;
np:hasProvenance
dgn-np:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_provenance
;
np:hasPublicationInfo
dgn-np:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_assertion
a
np:Assertion
.
dgn-np:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_provenance
a
np:Provenance
.
dgn-np:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN68a830509a82d21fb408c16bb7e47ff0
sio:SIO_000628
miriam-gene:6469
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_provenance
{
dgn-np:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_assertion
dcterms:description
"[The congenital abnormality preaxial polydactyly, extra digits, is an example of this novel class of mutations and is caused by ectopic expression of the signalling molecule Sonic Hedgehog (SHH) in the developing limb bud.]. 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:18156157
;
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:NP394970.RA6eqwjme5wh6ZTXetxAjudde3C-ZkDqTzUzuSauTbeRE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:55+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" .
}