@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg
> .
@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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{
this:
np:hasAssertion
dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_publicationInfo
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a
np:Nanopublication
.
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a
np:Assertion
.
dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_provenance
a
np:Provenance
.
dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_publicationInfo
a
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.
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{
miriam-gene:4292
a
ncit:C16612
.
lld:C0027126
a
ncit:C7057
.
dgn-gda:DGNe486158c84384e4fde4e8cf08aa00e66
sio:SIO_000628
miriam-gene:4292
,
lld:C0027126
;
a
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.
}
dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_provenance
{
dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_assertion
dcterms:description
"[PCR and Southern analysis of the triplet repeat regions of the DM and fragile X mental retardation (FRAXA) loci in cell lines HTC116 and LoVo, which contain mutations in both alleles of the hMLH1 and hMSH2 genes, respectively, indicated that the size of the endogenous (CTG)n and (CGG)n tracts fall within the range observed in the normal population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:8698331
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
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 .
}
dgn-np:NP558198.RAosD8-Y857zCHQaIwk5il08QAzg8-RBELGTEHtlqYTOg130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:12+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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pav:authoredBy
<
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
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<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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"v3.0.0" .
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