@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E
> .
@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:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_head
{
this:
np:hasAssertion
dgn-np:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_assertion
;
np:hasProvenance
dgn-np:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_provenance
;
np:hasPublicationInfo
dgn-np:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_assertion
a
np:Assertion
.
dgn-np:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_provenance
a
np:Provenance
.
dgn-np:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_assertion
{
miriam-gene:9379
a
ncit:C16612
.
lld:C2748536
a
ncit:C7057
.
dgn-gda:DGN16f976c0522191dc23a4913fc0207bf1
sio:SIO_000628
miriam-gene:9379
,
lld:C2748536
;
a
sio:SIO_001122
.
}
dgn-np:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_provenance
{
dgn-np:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_assertion
dcterms:description
"[Two other LAD1v patients were found to carry different stop codons in FERMT3 (p.Arg573X and p.Trp229X) and lacked the CALDAGGEF1 and NRXN2 mutations, providing convincing evidence that FERMT3 is the gene responsible for LAD1v.]. 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:19064721
;
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:NP707861.RApuoE-iZgEzcBbay8fg0jiw31u2HPVT9N_kTL-9U2F7E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:06+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" .
}