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Q41976697-1258C4B1-1476-4A9D-974D-A293C2E11FF9
Q41976697-1258C4B1-1476-4A9D-974D-A293C2E11FF9
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http://www.wikidata.org/entity/statement/Q41976697-1258C4B1-1476-4A9D-974D-A293C2E11FF9
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.
P2860
Q41976697-1258C4B1-1476-4A9D-974D-A293C2E11FF9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41976697-1258C4B1-1476-4A9D-974D-A293C2E11FF9
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wasDerivedFrom
d545c55114298461b3faf558bddddc0471f49d3d
P2860
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.