Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Cited by 15 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue;European Journal of Human Genetics;2023-11-27
2. Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue;2023-07-12
3. A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome;Human Genome Variation;2022-07-25
4. Splicing mutations in the CFTR gene as therapeutic targets;Gene Therapy;2022-06-02
5. Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption;Nucleic Acids Research;2021-09-01
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