Identification of de novo EP300 and PLAU variants in a patient
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Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children - Du - 2023 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Schematic representation (not in scale) of the CBP (A) and p300 (B)
Cancers, Free Full-Text
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Exome sequencing study of 20 patients with high myopia [PeerJ]
Exome sequencing study of 20 patients with high myopia [PeerJ]
Mutations truncating the EP300 acetylase in human cancers
Overview of sequence variants in CDH patients. (A) Number of validated
Skeletal findings of patients carrying mutations of the EP300 gene
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Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Cancers, Free Full-Text
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