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

Molecular and genetic dissection of recursive splicing

Martine J. van Belzen's research works Leiden University Medical Centre, Leiden (LUMC) and other places

PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

IJMS, Free Full-Text

Evolution of the U2 Spliceosome for Processing Numerous and Highly Diverse Non-canonical Introns in the Chordate Fritillaria borealis - ScienceDirect

Synthetic introns enable splicing factor mutation-dependent targeting of cancer cells

Short Report European Journal of Human Genetics

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

Comprehensive characterisation of intronic mis-splicing mutations in human cancers