Identification of de novo EP300 and PLAU variants in a patient
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Last updated 21 setembro 2024
Regulatory de novo mutations underlying intellectual disability
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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
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Distribution of CREBBP domains and mutations in our patient (in green)
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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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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