Article
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
Proceedings of the National Academy of Sciences of the United States of America - 18 Jul 2017
Ito Kaoru, Patel Parth N, Gorham Joshua M, McDonough Barbara, DePalma Steven R, Adler Emily E, Lam Lien, MacRae Calum A, Mohiuddin Syed M, Fatkin Diane, Seidman Christine E, Seidman J G
Abstract excerpt
Genetic variants that cause haploinsufficiency account for many autosomal dominant (AD) disorders. Gene-based diagnosis classifies variants that alter canonical splice signals as pathogenic, but due to imperfect understanding of RNA splice signals other variants that may create or eliminate splice sites are often clinically classified as variants of unknown significance (VUS). To improve recognition of pathogenic...
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