PDF) Identification of de novo EP300 and PLAU variants in a
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Last updated 16 abril 2025


P300 Interacted With N-Myc and Regulated Its Protein Stability via Altering Its Post-Translational Modifications in Neuroblastoma - ScienceDirect

Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Cancers, Free Full-Text

Frontiers Rare diseases of epigenetic origin: Challenges and opportunities

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

Application of de Novo Sequencing to Large-Scale Complex Proteomics Data Sets

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome - ScienceDirect

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Cis-Cardio: A comprehensive analysis platform for cardiovascular-relavant cis-regulation in human and mouse: Molecular Therapy - Nucleic Acids

Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors
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