PDF) Identification of de novo EP300 and PLAU variants in a
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Last updated 09 setembro 2024
CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Epigenetic regulation in hematopoiesis and its implications in the targeted therapy of hematologic malignancies
PDF) Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex - ScienceDirect
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Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors
Application of de Novo Sequencing to Large-Scale Complex Proteomics Data Sets
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research - Foreman - 2022 - Human Mutation - Wiley Online Library
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Frontiers Rare diseases of epigenetic origin: Challenges and opportunities
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