dgn-np:NP74828.RAIy5OBNoNRpzZlsoFYNnN81Y1mHj-zrTOJWdLSclOkeo130_provenance {
  dgn-np:NP74828.RAIy5OBNoNRpzZlsoFYNnN81Y1mHj-zrTOJWdLSclOkeo130_assertion dcterms:description "[FOXC1 and PITX2 genetic defects explain 40% of our large ASD cohort. The current spectrum of intragenic FOXC1 and PITX2 mutations was extended considerably, the identified copy number changes were fine mapped, the smallest FOXC1 and PITX2 deletions reported so far were identified, and the need for dedicated copy number screening of the FOXC1 and PITX2 genomic landscape was emphasized. This study is unique in that sequence and copy number changes were screened simultaneously in both genes.]. 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:20881294 ;
    prov:wasDerivedFrom dgn-void:gad-20130706 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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 .
}