Exon deletions of the EP300 and CREBBP genes in two children with
Por um escritor misterioso
Last updated 05 julho 2024
![Exon deletions of the EP300 and CREBBP genes in two children with](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2010.121/MediaObjects/41431_2011_Article_BFejhg2010121_Fig1_HTML.jpg)
![Exon deletions of the EP300 and CREBBP genes in two children with](https://iiif.elifesciences.org/lax:74970%2Felife-74970-fig1-v2.tif/full/1500,/0/default.jpg)
The missing link between genetic association and regulatory function
![Exon deletions of the EP300 and CREBBP genes in two children with](https://www.biorxiv.org/content/biorxiv/early/2021/03/30/2021.03.30.437620/F14.large.jpg)
NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain
![Exon deletions of the EP300 and CREBBP genes in two children with](https://www.pnas.org/cms/10.1073/pnas.2218330120/asset/2a6e158e-7479-4fbb-8812-fcd62086e50d/assets/images/large/pnas.2218330120fig07.jpg)
KMT2D acetylation by CREBBP reveals a cooperative functional interaction at enhancers in normal and malignant germinal center B cells
![Exon deletions of the EP300 and CREBBP genes in two children with](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-023-01516-9/MediaObjects/12920_2023_1516_Fig4_HTML.png)
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
![Exon deletions of the EP300 and CREBBP genes in two children with](https://onlinelibrary.wiley.com/cms/asset/8ef6774b-0058-4028-9b5a-391526910e17/mgg3972-fig-0001-m.jpg)
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
![Exon deletions of the EP300 and CREBBP genes in two children with](http://malacards.blob.core.windows.net/network-images-v5-17-5/rubinstein_taybi_syndrome_2_related_diseases.jpg)
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
![Exon deletions of the EP300 and CREBBP genes in two children with](https://pubs.acs.org/cms/10.1021/cr500452k/asset/images/medium/cr-2014-00452k_0005.gif)
Protein Lysine Acetylation by p300/CBP
![Exon deletions of the EP300 and CREBBP genes in two children with](https://www.biorxiv.org/content/biorxiv/early/2021/03/30/2021.03.30.437620/F15.large.jpg)
NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain
![Exon deletions of the EP300 and CREBBP genes in two children with](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fejhg.2010.121/MediaObjects/41431_2011_Article_BFejhg2010121_Fig3_HTML.jpg)
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH
![Exon deletions of the EP300 and CREBBP genes in two children with](https://atlasgeneticsoncology.org/img/cards_genes/CREBBPFig2.png)
CREBBP (CREB binding protein)
![Exon deletions of the EP300 and CREBBP genes in two children with](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2010.121/MediaObjects/41431_2011_Article_BFejhg2010121_Fig1_HTML.jpg)
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH
![Exon deletions of the EP300 and CREBBP genes in two children with](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fnature09730/MediaObjects/41586_2011_Article_BFnature09730_Fig1_HTML.jpg)
Inactivating mutations of acetyltransferase genes in B-cell lymphoma
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