Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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Characterization of splice-altering mutations in inherited predisposition to cancer
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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Characterization of splice-altering mutations in inherited predisposition to cancer
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
Arie van Haeringen's research works Leiden University, Leiden (LEI) and other places
Splicing mutations in human genetic disorders: examples, detection, and confirmation
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Systematic Analysis of Splice-Site-Creating Mutations in Cancer - ScienceDirect
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
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