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 fevereiro 2025
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Molecular and genetic dissection of recursive splicing
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Martine J. van Belzen's research works Leiden University Medical Centre, Leiden (LUMC) and other places
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PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
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IJMS, Free Full-Text
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Evolution of the U2 Spliceosome for Processing Numerous and Highly Diverse Non-canonical Introns in the Chordate Fritillaria borealis - ScienceDirect
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Synthetic introns enable splicing factor mutation-dependent targeting of cancer cells
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Short Report European Journal of Human Genetics
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Layout of SplicePie. Light-gray boxes indicate the files
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Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data
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Comprehensive characterisation of intronic mis-splicing mutations in human cancers
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