PDF) Identification of de novo EP300 and PLAU variants in a
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Last updated 24 fevereiro 2025
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
Frontiers The role of noncoding genetic variants in cardiomyopathy

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

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

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

Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors

Epigenetic regulation in the tumor microenvironment: molecular mechanisms and therapeutic targets

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers

MIT Computational Biology Group

Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases

PDF) Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients

Frontiers Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development

Epigenetic regulation in hematopoiesis and its implications in the targeted therapy of hematologic malignancies

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
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