PDF) Identification of de novo EP300 and PLAU variants in a
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Last updated 31 março 2025


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

PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

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The impact of rare germline variants on human somatic mutation processes

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Mutations truncating the EP300 acetylase in human cancers

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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

Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors

Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors
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