@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w
> .
@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:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_head
{
this:
np:hasAssertion
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_assertion
;
np:hasProvenance
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_provenance
;
np:hasPublicationInfo
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_assertion
a
np:Assertion
.
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_provenance
a
np:Provenance
.
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_assertion
{
miriam-gene:157570
a
ncit:C16612
.
lld:C0392475
a
ncit:C7057
.
dgn-gda:DGNd2a0305872956327441e731cc2b79b1f
sio:SIO_000628
miriam-gene:157570
,
lld:C0392475
;
a
sio:SIO_001121
.
}
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_provenance
{
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_assertion
dcterms:description
"[Having established that RBS and SC are caused by mutations in the same gene, we delineated the clinical phenotype of the tetraphocomelia spectrum that is associated with HR and ESCO2 mutations and differentiated it from other types of phocomelia that are negative for HR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:16380922
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP15075.RAKrLyD5pFGNiiQjfLNpehEmDu6fVLTgtoeijbKE8z--w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:05+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" .
}