@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA
> .
@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:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_head
{
this:
np:hasAssertion
dgn-np:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_assertion
;
np:hasProvenance
dgn-np:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_provenance
;
np:hasPublicationInfo
dgn-np:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_assertion
a
np:Assertion
.
dgn-np:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_provenance
a
np:Provenance
.
dgn-np:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_assertion
{
miriam-gene:4771
a
ncit:C16612
.
lld:C0027831
a
ncit:C7057
.
dgn-gda:DGN474f4ee659af454315b17ebc2595387e
sio:SIO_000628
miriam-gene:4771
,
lld:C0027831
;
a
sio:SIO_001121
.
}
dgn-np:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_provenance
{
dgn-np:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_assertion
dcterms:description
"[Using genetic linkage analysis with DNA markers tightly linked to the NF1 and NF2 loci, we determined that the likely location for the mutation in the first family was in the NF1 gene with odds of 97:1, whereas the mutation in the second family was excluded from the NF1 locus with odds greater than 100,000:1.]. 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:1745350
;
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:NP415920.RAaSHWHYgZXNykk5pPEGfHKckoOl33paPixliAM1l0fuA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:07+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" .
}