Identification of de novo EP300 and PLAU variants in a patient

Genes, Free Full-Text

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect

About - DECIPHER v11.23

Cancers, Free Full-Text

Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants - ScienceDirect

Zebrafish ep300 knockdown models Rubinstein Taybi Syndrome-2. (a-d)

Genes associated with SE and/or occupied by EP300 are downregulated by

Overview of sequence variants in CDH patients. (A) Number of validated

Schematic representation (not in scale) of the CBP (A) and p300 (B)

CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis