@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP464031.RAkFdi5c_RDECmzie8j5HwN1bAwJdERAUGAB_doP8BP2I
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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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#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP464031.RAkFdi5c_RDECmzie8j5HwN1bAwJdERAUGAB_doP8BP2I130_publicationInfo
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a
np:Nanopublication
.
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a
np:Assertion
.
dgn-np:NP464031.RAkFdi5c_RDECmzie8j5HwN1bAwJdERAUGAB_doP8BP2I130_provenance
a
np:Provenance
.
dgn-np:NP464031.RAkFdi5c_RDECmzie8j5HwN1bAwJdERAUGAB_doP8BP2I130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:477
a
ncit:C16612
.
lld:C0270862
a
ncit:C7057
.
dgn-gda:DGN90eaa58949fed36d216640debe71d3ce
sio:SIO_000628
miriam-gene:477
,
lld:C0270862
;
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.
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dgn-np:NP464031.RAkFdi5c_RDECmzie8j5HwN1bAwJdERAUGAB_doP8BP2I130_provenance
{
dgn-np:NP464031.RAkFdi5c_RDECmzie8j5HwN1bAwJdERAUGAB_doP8BP2I130_assertion
dcterms:description
"[The novel mutation identified confirms the role of FHM2 gene in forms of hemiplegic migraine associated with epilepsy with both familial and sporadic occurrence, and expands the spectrum of mutations related to these forms of the disease.]. 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:18644608
;
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 .
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{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
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pav:authoredBy
<
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> , <
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> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
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pav:version
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