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Q33565463-26E922DA-0578-4A20-8382-2C7DDE3323CD
Q33565463-26E922DA-0578-4A20-8382-2C7DDE3323CD
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Statement
http://www.wikidata.org/entity/statement/Q33565463-26E922DA-0578-4A20-8382-2C7DDE3323CD
The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis.
P2860
Q33565463-26E922DA-0578-4A20-8382-2C7DDE3323CD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33565463-26E922DA-0578-4A20-8382-2C7DDE3323CD
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Statement
wasDerivedFrom
c050691fb6c5c452154e5bfd3b381c504311f417
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.