@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI
> .
@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/
> .
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_head
{
this:
np:hasAssertion
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_assertion
;
np:hasProvenance
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_provenance
;
np:hasPublicationInfo
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_assertion
a
np:Assertion
.
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_provenance
a
np:Provenance
.
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_assertion
{
miriam-gene:6023
a
ncit:C16612
.
lld:C0220748
a
ncit:C7057
.
dgn-gda:DGN9f295ce406b6e7196dcaedfbbd786af6
sio:SIO_000628
miriam-gene:6023
,
lld:C0220748
;
a
sio:SIO_001121
.
}
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_provenance
{
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_assertion
dcterms:description
"[No recombinants were detected between the CHH gene and any of the three closest marker loci studied, suggesting that CHH in these families results from mutation(s) at the same locus as in the Amish and Finnish families.]. 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:7860061
;
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 .
}
dgn-np:NP1324082.RA7bw1riHZC2gHZ_cDthLXAQiTz9Ecoszur0Xz4m5CcLI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:46+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}