Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
Synthetic introns enable splicing factor mutation-dependent targeting of cancer cells
CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis
Short Report European Journal of Human Genetics
Frontiers A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions
The U1 spliceosomal RNA is recurrently mutated in multiple cancers
Graphical representation of the analysis of recursive splicing. Black
Research articles European Journal of Human Genetics
Exon trapping using DMD cosmids. (A) The genomic content of cosmids
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Molecular and genetic dissection of recursive splicing
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
The effect of orientation of the cosmid insert. +, cosmid insert in
Otopalatodigital Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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