@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
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{
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np:hasAssertion
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a
np:Nanopublication
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a
np:Assertion
.
dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_provenance
a
np:Provenance
.
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a
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{
miriam-gene:6041
a
ncit:C16612
.
lld:C0238339
a
ncit:C7057
.
dgn-gda:DGNa396240d45f962385deb8a1a96249e08
sio:SIO_000628
miriam-gene:6041
,
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;
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.
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dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_provenance
{
dgn-np:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_assertion
dcterms:description
"[We conclude that, although RNASEL mutations do not explain disease segregation in Finnish families with HPC, the variants are enriched in families with HPC that include more than two affected members and may also be associated with the age at disease onset.]. 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:11941539
;
prov:wasDerivedFrom
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;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP672958.RAG0JxAlAlFFfLt2_N2U86TNznBrW-M6AC7_OQaWYQKOY130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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;
pav:authoredBy
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> , <
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> , <
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> , <
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> ;
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