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Q41976697-9D8B0F90-8587-42A1-8E9E-604209E09FAA
Q41976697-9D8B0F90-8587-42A1-8E9E-604209E09FAA
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Statement
http://www.wikidata.org/entity/statement/Q41976697-9D8B0F90-8587-42A1-8E9E-604209E09FAA
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
Q41976697-9D8B0F90-8587-42A1-8E9E-604209E09FAA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41976697-9D8B0F90-8587-42A1-8E9E-604209E09FAA
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type
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wasDerivedFrom
d545c55114298461b3faf558bddddc0471f49d3d
P2860
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease