@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs> .
@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:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_head {
  this: np:hasAssertion dgn-np:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_assertion;
    np:hasProvenance dgn-np:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_provenance;
    np:hasPublicationInfo dgn-np:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_assertion a np:Assertion .
  
  dgn-np:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_provenance a np:Provenance .
  
  dgn-np:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_assertion {
  miriam-gene:57216 a ncit:C16612 .
  
  lld:C3494422 a ncit:C7057 .
  
  dgn-gda:DGN7e66d3a36810d17d5b1c19210f43e3ec sio:SIO_000628 miriam-gene:57216, lld:C3494422;
    a sio:SIO_001121 .
}

dgn-np:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_provenance {
  dgn-np:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_assertion dcterms:description
      "[The patients exhibited strikingly similar features according to their age: craniofacial, large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin vermilion of the upper lip, small mouth, and micro-retrognathia in infancy; slender and asymmetric face with protruding jaw from adolescence; skeletal, congenital contractures of fingers, wrists, and hips, and talipes equinovarus with anomalous insertions of flexor muscles; progressive joint laxity with recurrent dislocations; slender and/or cylindrical fingers and progressive talipes valgus and cavum or planus, with diaphyseal narrowing of phalanges, metacarpals, and metatarsals; pectus deformities; scoliosis or kyphoscoliosis with decreased physiological curvatures of thoracic spines and tall vertebrae; cutaneous, progressive hyperextensibility, bruisability, and fragility with atrophic scars; fine palmar creases in childhood to acrogeria-like prominent wrinkles in adulthood, recurrent subcutaneous infections with fistula formation; cardiovascular, cardiac valve abnormalities, recurrent large subcutaneous hematomas from childhood; gastrointestinal, constipation, diverticula perforation; respiratory, (hemo)pneumothorax; and ophthalmological, strabismus, glaucoma, refractive errors.]. 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:20503305;
    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:NP668342.RAVdPA6PZGUhEfYHYYLqSzq2E_etzBq229apKlFWBcSSs130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:43+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" .
}