Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP210743.RAQF78eYgECqWdPqHFj2r2yHN-DRovc8W3sQ3OGZ6T0ig#assertion> ?p ?o ?g. }
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- assertion description "[Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 7541511 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.