Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing
Article in Frontiers in Genetics (January 2022)
The most recent citing publications are shown below. View all 31 publications that cite this research output on Dimensions.
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report
Article in BMC Musculoskeletal Disorders (December 2021)
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes
Article in Human Mutation (July 2021)