@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8
> .
@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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{
this:
np:hasAssertion
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;
np:hasProvenance
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a
np:Nanopublication
.
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a
np:Assertion
.
dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_provenance
a
np:Provenance
.
dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:4000
a
ncit:C16612
.
lld:C1883552
a
ncit:C7057
.
dgn-gda:DGNa292a5f85988214a4b206eecf5dda243
sio:SIO_000628
miriam-gene:4000
,
lld:C1883552
;
a
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.
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dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_provenance
{
dgn-np:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_assertion
dcterms:description
"[Because of the survival benefit of early diagnosis and treatment, we recommend that LMNA gene sequencing be performed in all patients with undiagnosed congenital muscular dystrophy and neck extensor weakness, all patients with genetically undiagnosed LGMD, and those with suggestive clinical signs and nonspecific histologic abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:22491857
;
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:NP926194.RAe2dX_FRAJsNeUsh9tAcafsqK2SK95Ks0tylww52Ole8130_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
sio:SIO_000983
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prv:usedData
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> , <
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> ;
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