dgn-np:NP1325533.RAgZrZpO_1cWRz-XBTINc-z8PUa7FjuDb7rk1Vmj76gsI130_provenance {
  dgn-np:NP1325533.RAgZrZpO_1cWRz-XBTINc-z8PUa7FjuDb7rk1Vmj76gsI130_assertion dcterms:description "[This information is relevant for the screening of recently reported missense mutations of RET which cause Multiple Endocrine Neoplasia 2A (MEN2A) and for the search of additional point mutations of the same gene which might cause two other neural crest disorders, MEN2B and Hirschsprung disease, mapping in the same region as MEN2A.]. 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:7902707 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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 .
}