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Q42141818-E6CD1845-2DF2-4379-BB21-6378E079DAED
Q42141818-E6CD1845-2DF2-4379-BB21-6378E079DAED
BestRank
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http://www.wikidata.org/entity/statement/Q42141818-E6CD1845-2DF2-4379-BB21-6378E079DAED
An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.
P2860
Q42141818-E6CD1845-2DF2-4379-BB21-6378E079DAED
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42141818-E6CD1845-2DF2-4379-BB21-6378E079DAED
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wasDerivedFrom
1820cefebd080363a61c995499089f5f98c73ab7
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.