@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU
> .
@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/v4.0.0/void/
> .
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_head
{
this:
np:hasAssertion
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_assertion
;
np:hasProvenance
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_provenance
;
np:hasPublicationInfo
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_assertion
a
np:Assertion
.
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_provenance
a
np:Provenance
.
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_assertion
{
miriam-gene:1080
a
ncit:C16612
.
lld:C0010674
a
ncit:C7057
.
dgn-gda:DGN74edcd0233710b041494b35f591fadce
sio:SIO_000628
miriam-gene:1080
,
lld:C0010674
;
a
sio:SIO_001122
.
}
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_provenance
{
dgn-np:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_assertion
dcterms:description
"[Analogous with cystic fibrosis CFTR p.Phe508del, screening for RSPH9 p.Lys268del (which lacks sentinel dextrocardia) in those at risk would help in early diagnosis, tailored clinical management, genetic counselling and primary prevention.]. 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:22384920
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP965017.RAcwB4cupNzurKLra5LhR43E4gWeYzgpTggDTRUj5jzpU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:02+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}