Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_assertion> ?p ?o ?g. }
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- NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_assertion type Assertion NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_head.
- NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_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." NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_provenance.
- NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_assertion evidence source_evidence_literature NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_provenance.
- NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_assertion SIO_000772 7541511 NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_provenance.
- NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_assertion wasDerivedFrom befree-2016 NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_provenance.
- NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_assertion wasGeneratedBy ECO_0000203 NP1311619.RAxFDW1mJ5rQnxykUwmWDggmbTChNG2RTdwyhXndrPhjg130_provenance.