PDF) Identification of de novo EP300 and PLAU variants in a
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Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome - ScienceDirect
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Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
PDF) Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
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