Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Characterization of splice-altering mutations in inherited predisposition to cancer

Classification of the paired-end reads. (A) 'Mapping distance' reflects

Layout of SplicePie. Light-gray boxes indicate the files

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

Comprehensive characterisation of intronic mis-splicing mutations in human cancers

Research articles European Journal of Human Genetics

Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data

Classification of reads from the capture dataset mapped to FXR1. For

Graphical representation of the analysis of recursive splicing. Black