PDF) Identification of de novo EP300 and PLAU variants in a
Por um escritor misterioso
Last updated 06 abril 2025


Epigenetic regulation in the tumor microenvironment: molecular mechanisms and therapeutic targets

Genes, Free Full-Text

Biomolecules, Free Full-Text

Application of de Novo Sequencing to Large-Scale Complex Proteomics Data Sets

Application of de Novo Sequencing to Large-Scale Complex Proteomics Data Sets

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics

Exome sequencing study of 20 patients with high myopia [PeerJ]

De novo mutations disturb early brain development more frequently than common variants in schizophrenia - Itai - 2023 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Epigenetic regulation in hematopoiesis and its implications in the targeted therapy of hematologic malignancies

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
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