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> .
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> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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http://linkedlifedata.com/resource/umls/id/
> .
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http://identifiers.org/ncbigene/
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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dgn-np:NP422960.RAfdQnklbCYPQDD589PWGHqnj2RPKHwx2TniZNZ4zjq0w130_publicationInfo
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a
np:Nanopublication
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a
np:Assertion
.
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np:Provenance
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{
miriam-gene:2303
a
ncit:C16612
.
lld:C1704423
a
ncit:C7057
.
dgn-gda:DGN32f70e6b82ed4c1f4883079bc81b8ed7
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dgn-np:NP422960.RAfdQnklbCYPQDD589PWGHqnj2RPKHwx2TniZNZ4zjq0w130_provenance
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dgn-np:NP422960.RAfdQnklbCYPQDD589PWGHqnj2RPKHwx2TniZNZ4zjq0w130_assertion
dcterms:description
"[We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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sio:SIO_000772
miriam-pubmed:16081467
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prov:wasDerivedFrom
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prov:wasGeneratedBy
eco:ECO_0000203
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pav:importedOn
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xsd:date
.
dgn-void:source_evidence_literature
a
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{
this:
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xsd:dateTime
;
dcterms:rights
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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> , <
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> , <
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