Casarubinstein taybi omim

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

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Last updated 21 dezembro 2024
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
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
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
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