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Q34044639-C3018D56-05B3-463C-A594-E92D179EA519
Q34044639-C3018D56-05B3-463C-A594-E92D179EA519
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34044639-C3018D56-05B3-463C-A594-E92D179EA519
Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity
P2860
Q34044639-C3018D56-05B3-463C-A594-E92D179EA519
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34044639-C3018D56-05B3-463C-A594-E92D179EA519
rank
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Statement
wasDerivedFrom
151fb713e4081361b647380db8445de1c237c47d
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.