@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ
> .
@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/
> .
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_head
{
this:
np:hasAssertion
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_assertion
;
np:hasProvenance
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_assertion
a
np:Assertion
.
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_provenance
a
np:Provenance
.
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_assertion
{
miriam-gene:6442
a
ncit:C16612
.
lld:C2936332
a
ncit:C7057
.
dgn-gda:DGNa3f702a6dcf011776d0ffa60a957e562
sio:SIO_000628
miriam-gene:6442
,
lld:C2936332
;
a
sio:SIO_001122
.
}
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_provenance
{
dgn-np:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_assertion
dcterms:description
"[We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa.]. 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:7663524
;
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:NP692032.RAaQrm0-JWId9W3_iOLYX3b8qWmIj-smjCpwG0bsHMnoQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:37+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}