Identification of de novo EP300 and PLAU variants in a patient
Por um escritor misterioso
Last updated 21 maio 2024
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Mutations truncating the EP300 acetylase in human cancers
Fusion gene map of acute leukemia revealed by transcriptome sequencing of a consecutive cohort of 1000 cases in a single center
CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Cancers, Free Full-Text
Cancers, Free Full-Text
Base-pair level characterization of clinically-identified de novo
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate
Distribution of CREBBP domains and mutations in our patient (in green)
Biomedicines, Free Full-Text
Schematic representation (not in scale) of the CBP (A) and p300 (B)
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
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