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
Exon trapping using DMD cosmids. (A) The genomic content of cosmids
Lessons from non-canonical splicing
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Aberrant splicing events caused by insertion of genes of interest into expression vectors
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
Principles of the two approaches to investigate non-sequential
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
Splicing mutations in human genetic disorders: examples, detection, and confirmation
Characterization of splice-altering mutations in inherited predisposition to cancer
Characterization of splice-altering mutations in inherited predisposition to cancer
Systematic Analysis of Splice-Site-Creating Mutations in Cancer - ScienceDirect
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