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

PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome

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Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children, Orphanet Journal of Rare Diseases

Comprehensive characterisation of intronic mis-splicing mutations in human cancers

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

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

Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect

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

Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia