@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs
> .
@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:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_head
{
this:
np:hasAssertion
dgn-np:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_assertion
;
np:hasProvenance
dgn-np:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_provenance
;
np:hasPublicationInfo
dgn-np:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_assertion
a
np:Assertion
.
dgn-np:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_provenance
a
np:Provenance
.
dgn-np:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_assertion
{
miriam-gene:2218
a
ncit:C16612
.
lld:C0410174
a
ncit:C7057
.
dgn-gda:DGN11c253240a86453c118ff542aedb9bc9
sio:SIO_000628
miriam-gene:2218
,
lld:C0410174
;
a
sio:SIO_001121
.
}
dgn-np:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_provenance
{
dgn-np:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_assertion
dcterms:description
"[In order to establish a genotype-phenotype correlation, we performed haplotype analysis using microsatellite markers closest to the FCMD gene (FCMD) in 56 Japanese FCMD families, including 35 families whose children were diagnosed as FCMD with the typical phenotype, 12 families with a mild phenotype, and 9 families with a severe phenotype.]. 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:10817652
;
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:NP284396.RA7LGBM8AJFZbp-TeczPAZU8_1kNODP01Mq67BuaIi3gs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:54+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" .
}