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http://rdf.disgenet.org/nanopublications.trig#NP554287.RA1Wa4Jh_kYgZPatZiYXRLnFRRzztx_cFzTaV2evuziV4
> .
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> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
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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#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
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> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
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{
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{
miriam-gene:8195
a
ncit:C16612
.
lld:C0752166
a
ncit:C7057
.
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dgn-np:NP554287.RA1Wa4Jh_kYgZPatZiYXRLnFRRzztx_cFzTaV2evuziV4130_provenance
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dgn-np:NP554287.RA1Wa4Jh_kYgZPatZiYXRLnFRRzztx_cFzTaV2evuziV4130_assertion
dcterms:description
"[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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miriam-pubmed:21044901
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eco:ECO_0000203
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pav:importedOn
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xsd:date
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dgn-void:source_evidence_literature
a
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rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
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dgn-np:NP554287.RA1Wa4Jh_kYgZPatZiYXRLnFRRzztx_cFzTaV2evuziV4130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
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prv:usedData
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