Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Por um escritor misterioso
Last updated 15 março 2025


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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

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

Graphical representation of the analysis of recursive splicing. Black