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Q40649754-E22BA24A-9A58-41BF-8591-6C76307DE5CF
Q40649754-E22BA24A-9A58-41BF-8591-6C76307DE5CF
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http://www.wikidata.org/entity/statement/Q40649754-E22BA24A-9A58-41BF-8591-6C76307DE5CF
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.
P2860
Q40649754-E22BA24A-9A58-41BF-8591-6C76307DE5CF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40649754-E22BA24A-9A58-41BF-8591-6C76307DE5CF
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wasDerivedFrom
38fd3eb34c645232e6c1bcf72f25548554ddf66c
P2860
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.