Identification of de novo EP300 and PLAU variants in a patient
Por um escritor misterioso
Last updated 18 junho 2024
![Identification of de novo EP300 and PLAU variants in a patient](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41598-021-95133-0/MediaObjects/41598_2021_95133_Fig7_HTML.png)
The analysis for the characterization of three mosaic variants. (A) NGS
![Identification of de novo EP300 and PLAU variants in a patient](https://onlinelibrary.wiley.com/cms/asset/43fe662f-0f42-4971-b502-3531891f22bb/humu24438-fig-0002-m.jpg)
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients - Coursimault - 2022 - Human Mutation - Wiley Online Library
![Identification of de novo EP300 and PLAU variants in a patient](https://www.mdpi.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g002-550.jpg)
Genes, Free Full-Text
![Identification of de novo EP300 and PLAU variants in a patient](https://www.researchgate.net/publication/270656519/figure/fig2/AS:601669515628604@1520460599920/The-variants-in-SMC1A-and-SYCP2-identified-in-the-patients-with-WDSTS-WDSTS-1-and.png)
The variants in SMC1A and SYCP2 identified in the patients with WDSTS
![Identification of de novo EP300 and PLAU variants in a patient](https://www.researchgate.net/profile/Aswini-Babu/publication/322848036/figure/fig5/AS:704809271296000@1545051033429/Jaw-fin-and-heart-progenitor-populations-are-affected-by-ep300-knockdown-a-d-RNA-in_Q320.jpg)
Jaw, fin and heart progenitor populations are affected by ep300
![Identification of de novo EP300 and PLAU variants in a patient](https://ars.els-cdn.com/content/image/1-s2.0-S2473952923003166-BLOODA_ADV-2023-009814-gr6.jpg)
Identification of USP9X as a leukemia susceptibility gene - ScienceDirect
![Identification of de novo EP300 and PLAU variants in a patient](https://www.researchgate.net/publication/342080941/figure/fig1/AS:962705800306705@1606538357499/Identification-of-a-new-de-novo-TBL1XR1-frameshift-mutation-in-an-ASD-family-a-Pedigree.png)
Identification of a new de novo TBL1XR1 frameshift mutation in an ASD
![Identification of de novo EP300 and PLAU variants in a patient](https://ars.els-cdn.com/content/image/1-s2.0-S2473952923003166-BLOODA_ADV-2023-009814-ga1.jpg)
Identification of USP9X as a leukemia susceptibility gene - ScienceDirect
![Identification of de novo EP300 and PLAU variants in a patient](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41392-020-00437-8/MediaObjects/41392_2020_437_Fig1_HTML.png)
CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis
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