Identification of de novo EP300 and PLAU variants in a patient
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Distribution of pathogenic ANKRD17 variants and 4q13.3 deletions (A)
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Schematic representation of p300 protein and EP300 gene, including
Biomolecules, Free Full-Text
CIMB, Free Full-Text
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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