@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw
> .
@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:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_head
{
this:
np:hasAssertion
dgn-np:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion
;
np:hasProvenance
dgn-np:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_provenance
;
np:hasPublicationInfo
dgn-np:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion
a
np:Assertion
.
dgn-np:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_provenance
a
np:Provenance
.
dgn-np:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion
{
miriam-gene:1540
a
ncit:C16612
.
lld:C0221271
a
ncit:C7057
.
dgn-gda:DGN2f37e52129cc2f95a7eea6bc3711ff73
sio:SIO_000628
miriam-gene:1540
,
lld:C0221271
;
a
sio:SIO_001121
.
}
dgn-np:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_provenance
{
dgn-np:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion
dcterms:description
"[Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L).]. 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:16098078
;
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:NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:09+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" .
}