dgn-np:NP138112.RABaf0VmWA5WEG8T_uh5sMIGnoW_SYOVMiHjQLIORro8w130_provenance {
  dgn-np:NP138112.RABaf0VmWA5WEG8T_uh5sMIGnoW_SYOVMiHjQLIORro8w130_assertion dcterms:description "[This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly.]. 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:20672375 ;
    prov:wasDerivedFrom dgn-void:gad-20150221 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:gad-20150221 pav:importedOn "2015-02-21"^^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 .
}