@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_head
{
this:
np:hasAssertion
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_assertion
;
np:hasProvenance
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_provenance
;
np:hasPublicationInfo
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_assertion
a
np:Assertion
.
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_provenance
a
np:Provenance
.
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_assertion
{
miriam-gene:2200
a
ncit:C16612
.
lld:C1458156
a
ncit:C7057
.
dgn-gda:DGN386a257a657e6c170aa91d6fc526a286
sio:SIO_000628
miriam-gene:2200
,
lld:C1458156
;
a
sio:SIO_001121
.
}
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_provenance
{
dgn-np:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_assertion
dcterms:description
"[Mosaicism confined to germ-line cells has rarely been reported, and this report of mosaicism for the FBN1 mutation in MFS represents an important case, in light of the evaluation of the recurrence risk in genetic counseling of families with MFS.]. 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:10090884
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP889218.RAA7y4z8xpFbLUDUr95ehIXyxpRVQ-Eroi0P4nSwXffDs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:06+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}