Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
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M. Skoblov | I. Bychkov | G. Baydakova | A. Filatova | E. Zakharova | V. Tabakov | M. Karpova | S. Klyushnikov | D. Korotkova | T. Proshlyakova | A. Ilyushkina | Grigory Perelman