@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
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#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
dgn-np:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_assertion
;
np:hasProvenance
dgn-np:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_provenance
;
np:hasPublicationInfo
dgn-np:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_assertion
a
np:Assertion
.
dgn-np:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_provenance
a
np:Provenance
.
dgn-np:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_assertion
{
miriam-gene:4669
a
ncit:C16612
.
lld:C0263214
a
ncit:C7057
.
dgn-gda:DGN28cc6423d34ecf824f833b6cedef6d2a
sio:SIO_000628
miriam-gene:4669
,
lld:C0263214
;
a
sio:SIO_001121
.
}
dgn-np:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_provenance
{
dgn-np:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_assertion
dcterms:description
"[We report the allele frequency of common mutations for each gene in our patient cohort and the exonic distribution of coding sequence alterations in the IDS, SGSH and NAGLU genes, which reveals several potential `hot-spots`.]. 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:22976768
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP664395.RAiecn2EGtZM_Nv4j2cieryf4UG6HgRWphwnPs8oU5Qng130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:41+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
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"v2.1.0" .
}