PDF) Identification of de novo EP300 and PLAU variants in a
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Last updated 31 outubro 2024
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
Identifying collagen VI as a target of fibrotic diseases regulated by CREBBP/EP300
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research - Foreman - 2022 - Human Mutation - Wiley Online Library
Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development
A computational framework for identifying the transcription factors involved in enhancer-promoter loop formation: Molecular Therapy - Nucleic Acids
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Molecular characterization of Richter syndrome identifies de novo diffuse large B-cell lymphomas with poor prognosis
Genes, Free Full-Text
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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome - ScienceDirect
PDF) Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene
Metabolic adaptations underpin resistance to histone acetyltransferase inhibition
Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
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