@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4
> .
@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:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_head
{
this:
np:hasAssertion
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_assertion
;
np:hasProvenance
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance
;
np:hasPublicationInfo
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_assertion
a
np:Assertion
.
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance
a
np:Provenance
.
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_assertion
{
miriam-gene:3897
a
ncit:C16612
.
lld:C0795953
a
ncit:C7057
.
dgn-gda:DGNe70fcdd0e6631ad21ce358fa4c530f61
sio:SIO_000628
miriam-gene:3897
,
lld:C0795953
;
a
sio:SIO_001122
.
}
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance
{
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_assertion
dcterms:description
"[This study demonstrates that FAMA allows rapid and reliable detection of mutations in the L1CAM gene and thus represents one of the most appropriate methods to provide diagnosis for accurate genetic counseling in families with HSAS, MASA, or SPG1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:9744477
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:54+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" .
}