@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE
> .
@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:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_head
{
this:
np:hasAssertion
dgn-np:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_assertion
;
np:hasProvenance
dgn-np:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_provenance
;
np:hasPublicationInfo
dgn-np:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_assertion
a
np:Assertion
.
dgn-np:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_provenance
a
np:Provenance
.
dgn-np:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_assertion
{
miriam-gene:2335
a
ncit:C16612
.
lld:C0265216
a
ncit:C7057
.
dgn-gda:DGNb06dc427dca9c16c19522495c4644229
sio:SIO_000628
miriam-gene:2335
,
lld:C0265216
;
a
sio:SIO_001122
.
}
dgn-np:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_provenance
{
dgn-np:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_assertion
dcterms:description
"[Interestingly, a missense mutation in an XHC family predicting the Val768Ile change in the second fibronectin type III domain of L1CAM was found not only in the two affected cousins and their obligate carrier mothers but also in two unaffected male relatives of the patients.]. 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:9268105
;
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:NP409916.RAn3fzmWepQH1QlFfWXm6KCNh6K1iU5vjopwHMzMRt8GE130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:38+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" .
}