Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C

European Journal of Human Genetics, Published online: 06 May 2021; doi:10.1038/s41431-021-00898-7Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C

Source: European Journal of Human Genetics - May 6, 2021 Category: Genetics & Stem Cells Authors: Igor Bychkov Alexandra Filatova Grigory Perelman Tatiana Proshlyakova Daria Korotkova Sergey Klyushnikov Maria Karpova Vyacheslav Tabakov Galina Baydakova Alexandra Ilyushkina Mikhail Skoblov Ekaterina Zakharova Source Type: research