@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y
> .
@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:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_head
{
this:
np:hasAssertion
dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_assertion
;
np:hasProvenance
dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_assertion
a
np:Assertion
.
dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_provenance
a
np:Provenance
.
dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_assertion
{
miriam-gene:11005
a
ncit:C16612
.
lld:C0265962
a
ncit:C7057
.
dgn-gda:DGN72cb6023e194ad5882ee433a03886e1d
sio:SIO_000628
miriam-gene:11005
,
lld:C0265962
;
a
sio:SIO_001122
.
}
dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_provenance
{
dgn-np:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_assertion
dcterms:description
"[This finding indicates that haploinsufficiency of SPINK5 can cause the NS phenotype in the presence of one null mutation with homozygous G1258A polymorphisms in SPINK5, and this could impair the function of LEKTI and therefore acts as a true mutation.]. 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:19438860
;
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:NP738615.RABRDelOa83ArlTwbDD8yQWShx0-Gc2Cq4bXMErb51Q1Y130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:20+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" .
}