PDF) Identification of de novo EP300 and PLAU variants in a
Por um escritor misterioso
Last updated 22 fevereiro 2025
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Epigenetic regulation in the tumor microenvironment: molecular mechanisms and therapeutic targets
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Genes, Free Full-Text

Biomolecules, Free Full-Text

Application of de Novo Sequencing to Large-Scale Complex Proteomics Data Sets
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Application of de Novo Sequencing to Large-Scale Complex Proteomics Data Sets
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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
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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
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De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
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Exome sequencing study of 20 patients with high myopia [PeerJ]
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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
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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
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Epigenetic regulation in hematopoiesis and its implications in the targeted therapy of hematologic malignancies
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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
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