PDF) Identification of de novo EP300 and PLAU variants in a
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Last updated 05 abril 2025


Genes, Free Full-Text

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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

JCDD, Free Full-Text

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Genes, Free Full-Text

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Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

PDF) Variant biomarker discovery using mass spectrometry-based proteogenomics

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome - ScienceDirect

Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome

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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