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http://rdf.disgenet.org/nanopublications.trig#NP213375.RAni_D5WFxvnH9FI_MVogisxRbH7rptrNDCAsDnuSwfcY
> .
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> .
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http://www.w3.org/2001/XMLSchema#
> .
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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/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
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;
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np:Nanopublication
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np:Assertion
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{
miriam-gene:3172
a
ncit:C16612
.
lld:C0342276
a
ncit:C7057
.
dgn-gda:DGN2def1be9eb74e1b8d114a36ac650c054
sio:SIO_000628
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,
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dgn-np:NP213375.RAni_D5WFxvnH9FI_MVogisxRbH7rptrNDCAsDnuSwfcY130_provenance
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dgn-np:NP213375.RAni_D5WFxvnH9FI_MVogisxRbH7rptrNDCAsDnuSwfcY130_assertion
dcterms:description
"[Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic form of NIDDM characterized by an early age of onset and autosomal dominant inheritance, and linkage studies have identified genes that are mutated in different MODY pedigrees on chromosome 20 (MODY1 locus, hepatocyte nuclear factor-4alpha [HNF-4alpha] gene), chromosome 7 (MODY2 locus, glucokinase gene), and chromosome 12 (MODY3 locus, HNF-1alpha gene).]. 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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miriam-pubmed:9792550
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pav:importedOn
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xsd:date
.
dgn-void:source_evidence_literature
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rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
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dgn-np:NP213375.RAni_D5WFxvnH9FI_MVogisxRbH7rptrNDCAsDnuSwfcY130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
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dcterms:rights
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> ;
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