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Q40117572-C816A8CE-A2EA-447F-A7D2-2A81D193D111
Q40117572-C816A8CE-A2EA-447F-A7D2-2A81D193D111
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40117572-C816A8CE-A2EA-447F-A7D2-2A81D193D111
RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events.
P2860
Q40117572-C816A8CE-A2EA-447F-A7D2-2A81D193D111
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40117572-C816A8CE-A2EA-447F-A7D2-2A81D193D111
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Statement
wasDerivedFrom
c8ea5fd11f086246a22954095f5aafc921301ac5
P2860
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.