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http://rdf.disgenet.org/nanopublications.trig#NP175084.RA1bnl3mNlQIMpj9PpR7nRGphZ3e-YWYmZPI09FdPaxMc
> .
@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#
> .
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{
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np:hasAssertion
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;
np:hasProvenance
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a
np:Nanopublication
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a
np:Assertion
.
dgn-np:NP175084.RA1bnl3mNlQIMpj9PpR7nRGphZ3e-YWYmZPI09FdPaxMc130_provenance
a
np:Provenance
.
dgn-np:NP175084.RA1bnl3mNlQIMpj9PpR7nRGphZ3e-YWYmZPI09FdPaxMc130_publicationInfo
a
np:PublicationInfo
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{
miriam-gene:343641
a
ncit:C16612
.
lld:C0087012
a
ncit:C7057
.
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.
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dgn-np:NP175084.RA1bnl3mNlQIMpj9PpR7nRGphZ3e-YWYmZPI09FdPaxMc130_provenance
{
dgn-np:NP175084.RA1bnl3mNlQIMpj9PpR7nRGphZ3e-YWYmZPI09FdPaxMc130_assertion
dcterms:description
"[The finding of TGM6 as a novel causative gene of spinocerebellar ataxia illustrates whole-exome sequencing of affected individuals from one family as an effective and cost efficient method for mapping genes of rare Mendelian disorders and the use of linkage analysis and exome sequencing for further improving efficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:21106500
;
prov:wasDerivedFrom
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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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dgn-np:NP175084.RA1bnl3mNlQIMpj9PpR7nRGphZ3e-YWYmZPI09FdPaxMc130_publicationInfo
{
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
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prv:usedData
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> , <
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pav:createdBy
<
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