@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP519190.RAREmOpE8ObOSg42-OFJ-EgsjgGmhRy2rqlySyMONy-mc
> .
@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/v4.0.0/void/
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP519190.RAREmOpE8ObOSg42-OFJ-EgsjgGmhRy2rqlySyMONy-mc130_publicationInfo
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a
np:Nanopublication
.
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a
np:Assertion
.
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a
np:Provenance
.
dgn-np:NP519190.RAREmOpE8ObOSg42-OFJ-EgsjgGmhRy2rqlySyMONy-mc130_publicationInfo
a
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.
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{
miriam-gene:6023
a
ncit:C16612
.
lld:C0220748
a
ncit:C7057
.
dgn-gda:DGN159ccbd6ff7bca074813d4f121e8e8f2
sio:SIO_000628
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,
lld:C0220748
;
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.
}
dgn-np:NP519190.RAREmOpE8ObOSg42-OFJ-EgsjgGmhRy2rqlySyMONy-mc130_provenance
{
dgn-np:NP519190.RAREmOpE8ObOSg42-OFJ-EgsjgGmhRy2rqlySyMONy-mc130_assertion
dcterms:description
"[The marked diversity of mutations in RMRP and the low homozygosity rate in our patient population indicate that CHH is more common than previously estimated, but may go unrecognized because of its variable clinical presentation.]. 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:16244706
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP519190.RAREmOpE8ObOSg42-OFJ-EgsjgGmhRy2rqlySyMONy-mc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:40+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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> , <
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> ;
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<
http://orcid.org/0000-0003-0169-8159
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"v4.0.0" .
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