dgn-np:NP609409.RArwR_k6gauhs_mkStwFNRJkW5q6Dx0J_xgXEZ5GYzZqI130_provenance {
  dgn-np:NP609409.RArwR_k6gauhs_mkStwFNRJkW5q6Dx0J_xgXEZ5GYzZqI130_assertion dcterms:description "[The authors present the case of a 2.5-year-old African-American boy with desmoplastic medulloblastoma (MB) and nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, an autosomal dominant disorder resulting from mutations in the patched (PTCH) gene that predisposes to neoplasias (including basal cell carcinomas [BCCs] and MB) and to widespread congenital malformations.]. 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:17328283 ;
    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 .
}