Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Por um escritor misterioso
Last updated 30 junho 2024
![Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2016.47/MediaObjects/41431_2016_Article_BFejhg201647_Fig1_HTML.jpg)
![Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS](https://www.researchgate.net/publication/274086325/figure/fig1/AS:324910284066838@1454476056519/Principles-of-the-two-approaches-to-investigate-non-sequential-splicing-A.png)
Principles of the two approaches to investigate non-sequential
![Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41467-022-29271-y/MediaObjects/41467_2022_29271_Fig1_HTML.png)
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data
![Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS](https://www.researchgate.net/publication/375035978/figure/fig2/AS:11431281202054873@1698678395966/New-variants-found-at-reanalysis-Left-Distribution-of-types-of-new-variants-discovered_Q320.jpg)
Arie van Haeringen's research works Leiden University, Leiden (LEI) and other places
![Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS](https://ars.els-cdn.com/content/image/1-s2.0-S1535610820306590-gr4.jpg)
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](https://media.springernature.com/w290h158/springer-static/image/art%3A10.1038%2Fejhg.2016.47/MediaObjects/41431_2016_Article_BFejhg201647_Fig1_HTML.jpg)
Research articles European Journal of Human Genetics
![Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS](https://www.researchgate.net/profile/Neeti_Sharma/publication/45508569/figure/tbl2/AS:670393698369561@1536845721941/First-group-of-markers-identifi-ed-in-signifi-cant-association-with-RSTS-in-Indian_Q320.jpg)
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](https://ars.els-cdn.com/content/image/1-s2.0-S1535610820306590-gr6.jpg)
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](https://www.ijbs.com/v18/p4914/toc.jpg)
Aberrant splicing events caused by insertion of genes of interest into expression vectors
![Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS](https://www.researchgate.net/profile/Neeti_Sharma/publication/45508569/figure/fig1/AS:277400018538496@1443148726095/figure-fig1_Q320.jpg)
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](https://www.researchgate.net/profile/Annemieke-Aartsma-Rus/publication/274086325/figure/fig2/AS:324929670139904@1454480678776/Classification-of-the-paired-end-reads-A-Mapping-distance-reflects-the-inner_Q320.jpg)
Classification of the paired-end reads. (A) 'Mapping distance' reflects
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