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Identification of de novo EP300 and PLAU variants in a patient

Por um escritor misterioso
Last updated 31 janeiro 2025
Identification of de novo EP300 and PLAU variants in a patient
Identification of de novo EP300 and PLAU variants in a patient
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Identification of de novo EP300 and PLAU variants in a patient
Schematic representation (not in scale) of the CBP (A) and p300 (B)
Identification of de novo EP300 and PLAU variants in a patient
Biomedicines, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development
Identification of de novo EP300 and PLAU variants in a patient
Biomolecules, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
Zebrafish ep300 knockdown models Rubinstein Taybi Syndrome-2. (a-d)
Identification of de novo EP300 and PLAU variants in a patient
Frontiers Rare diseases of epigenetic origin: Challenges and opportunities
Identification of de novo EP300 and PLAU variants in a patient
Jaw, fin and heart progenitor populations are affected by ep300
Identification of de novo EP300 and PLAU variants in a patient
Zebrafish has two co-orthologues of ep300. (a) Phylogenetic tree of
Identification of de novo EP300 and PLAU variants in a patient
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Identification of de novo EP300 and PLAU variants in a patient
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Identification of de novo EP300 and PLAU variants in a patient
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Identification of de novo EP300 and PLAU variants in a patient
Cancers, Free Full-Text
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