@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A
> .
@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:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_head
{
this:
np:hasAssertion
dgn-np:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_assertion
;
np:hasProvenance
dgn-np:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_provenance
;
np:hasPublicationInfo
dgn-np:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_assertion
a
np:Assertion
.
dgn-np:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_provenance
a
np:Provenance
.
dgn-np:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_assertion
{
miriam-gene:1415
a
ncit:C16612
.
lld:C0027832
a
ncit:C7057
.
dgn-gda:DGNdb5a926fd88e2afe59af0f25f321753d
sio:SIO_000628
miriam-gene:1415
,
lld:C0027832
;
a
sio:SIO_001121
.
}
dgn-np:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_provenance
{
dgn-np:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_assertion
dcterms:description
"[A CA-repeat polymorphism at the CRYB2 locus was the most informative marker in our families (lod score 5.99), but because the observed recombination fraction between NF2 and CRYB2 was 10 cM, predictions using this marker will need to be interpreted with caution.]. 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:1496982
;
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:NP643262.RAw0oIVCRHEfIUzak9y9y3nQ8B8DndYWpuLXiuKp9RF2A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:27+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" .
}