@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU
> .
@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:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_head
{
this:
np:hasAssertion
dgn-np:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_assertion
;
np:hasProvenance
dgn-np:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_provenance
;
np:hasPublicationInfo
dgn-np:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_assertion
a
np:Assertion
.
dgn-np:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_provenance
a
np:Provenance
.
dgn-np:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_assertion
{
miriam-gene:1200
a
ncit:C16612
.
lld:C1850451
a
ncit:C7057
.
dgn-gda:DGNe917ce9052bec32db4f9c8fc93fd056e
sio:SIO_000628
miriam-gene:1200
,
lld:C1850451
;
a
sio:SIO_001121
.
}
dgn-np:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_provenance
{
dgn-np:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_assertion
dcterms:description
"[The genealogical data collected further support the molecular genetic findings and provide evidence that the mutation causing CLN1 in Finland is very old, whereas the mutation causing the variant CLN2 could be a result of a younger, i.e., more recent founder effect.]. 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:2071142
;
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:NP252815.RAbYOI--V_jVIQNFZktqsX0PhZfVGreYRXzhFPVZWHBSU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:21+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" .
}