Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Por um escritor misterioso
Last updated 24 janeiro 2025
Molecular and genetic dissection of recursive splicing
Martine J. van Belzen's research works Leiden University Medical Centre, Leiden (LUMC) and other places
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
IJMS, Free Full-Text
Evolution of the U2 Spliceosome for Processing Numerous and Highly Diverse Non-canonical Introns in the Chordate Fritillaria borealis - ScienceDirect
Synthetic introns enable splicing factor mutation-dependent targeting of cancer cells
Short Report European Journal of Human Genetics
Layout of SplicePie. Light-gray boxes indicate the files
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data
Comprehensive characterisation of intronic mis-splicing mutations in human cancers
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