Exonic splicing mutation prevalence
Type I Glanzmann thrombasthenia caused by an apparently silent β3 mutation that results in aberrant splicing and reduced β3 mRNA
New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome.
A novel frameshift mutation in the lipoprotein lipase gene is rescued by alternative messenger RNA splicing
