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> .
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> .
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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/
> .
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http://identifiers.org/ncbigene/
> .
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http://identifiers.org/pubmed/
> .
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http://purl.obolibrary.org/obo/eco.owl#
> .
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http://purl.org/ontology/wi/core#
> .
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> .
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http://purl.org/pav/2.0/
> .
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http://purl.org/net/provenance/ns#
> .
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http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
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http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
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> .
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{
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{
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a
ncit:C16612
.
lld:C0595905
a
ncit:C7057
.
dgn-gda:DGNab09214e015f96eb45f875dd67e56206
sio:SIO_000628
miriam-gene:5310
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dgn-np:NP351225.RA_MXN9l_mvtDujKkHg6kBgG3E-UJVHSl4xqrpCONJ9MM130_provenance
{
dgn-np:NP351225.RA_MXN9l_mvtDujKkHg6kBgG3E-UJVHSl4xqrpCONJ9MM130_assertion
dcterms:description
"[From these cases and a review of the literature, we draw the following conclusions: (1) so far, all fetal ADPKD kidneys that have been histologically studied have shown cystic dilatations; 28/32 of these fetuses had ultrasonographic manifestations of the disease and/or had sibs with an early-onset form of it; (2) these cysts can be found in newly formed nephrons (fetus 2), predominantly in the more mature nephrons of the deep cortex (fetus 1) or more sparsely distributed in the cortex (fetus 3); these different patterns may reflect different rates of progression of the disease; (3) in contrast to the histologic findings in adult kidneys, glomeruli seem to be predominantly affected in fetal ADPKD; (4) severe fetal expression of ADPKD seems to cluster in some families; and (5) so far, all DNA analyses performed in families with subjects presenting during the fetal or neonatal period have been consistent with linkage to the PKD1 locus.]. 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:8074152
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dgn-void:befree-20140225
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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 .
}
dgn-np:NP351225.RA_MXN9l_mvtDujKkHg6kBgG3E-UJVHSl4xqrpCONJ9MM130_publicationInfo
{
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xsd:dateTime
;
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> ;
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prv:usedData
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> , <
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> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
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pav:version
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