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http://rdf.disgenet.org/nanopublications.trig#NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0
> .
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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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dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_assertion
a
np:Assertion
.
dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_provenance
a
np:Provenance
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a
np:PublicationInfo
.
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{
miriam-gene:7844
a
ncit:C16612
.
lld:C0014527
a
ncit:C7057
.
dgn-gda:DGN50e77261873ff03bae5e4487d19f0e5b
sio:SIO_000628
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,
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;
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.
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dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_provenance
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dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_assertion
dcterms:description
"[We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.]. 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:3049834
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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:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
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> , <
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> , <
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> , <
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