@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4
> .
@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:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_head
{
this:
np:hasAssertion
dgn-np:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_assertion
;
np:hasProvenance
dgn-np:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_provenance
;
np:hasPublicationInfo
dgn-np:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_assertion
a
np:Assertion
.
dgn-np:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_provenance
a
np:Provenance
.
dgn-np:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_assertion
{
miriam-gene:5475
a
ncit:C16612
.
lld:C0796085
a
ncit:C7057
.
dgn-gda:DGN811e811d472d043066768a5b18b3e225
sio:SIO_000628
miriam-gene:5475
,
lld:C0796085
;
a
sio:SIO_001121
.
}
dgn-np:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_provenance
{
dgn-np:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_assertion
dcterms:description
"[Direct sequencing or SSCP analysis of the coding exons of five genes (SCML1, SCML2, STK9, RS1 and PPEF1), considered as candidate genes on the basis of their location in the critical interval, failed to detect any mutation in 12 unrelated NHS patients, thus making it highly unlikely that these genes are implicated in NHS.]. 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:12173028
;
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:NP345688.RAXNj7lMwsAdBwTlNlmxK5oLwguoRhpPPUnb3jY1Jzzt4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:23+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" .
}