dgn-np:NP533787.RA3zYp-4u9wi5KM567C3w5-a7Spw7r0sI7Q1DRw7UD5Nc130_provenance {
  dgn-np:NP533787.RA3zYp-4u9wi5KM567C3w5-a7Spw7r0sI7Q1DRw7UD5Nc130_assertion dcterms:description "[Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with `syndromic Hirschsprung disease` with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinct facial phenotype delineated by Mowat et al.]. 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:11891681 ;
    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 .
}