PDF) Identification of de novo EP300 and PLAU variants in a
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The language of chromatin modification in human cancers
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
(PDF) Identification of cis-regulatory mutations generating de novo edges in personalized cancer gene regulatory networks
Cancers, Free Full-Text
Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Frontiers The role of noncoding genetic variants in cardiomyopathy
Cancers, Free Full-Text
Biomolecules, Free Full-Text
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect
PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report
Application of de Novo Sequencing to Large-Scale Complex Proteomics Data Sets
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