Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP906279.RABz6jG173RZZMOLLCmacRM2wnpndur4yX7dvkS9h6Fps#assertion> ?p ?o ?g. }
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- assertion description "[Germline mutations of RET cause a dominantly inherited dysgenesis of the enteric nervous system known as Hirschsprung's disease (HSCR; aganglionosis megacolon).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10484767 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.