(PDF) Identification of de novo EP300 and PLAU variants in a
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Last updated 11 abril 2025


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Variant recurrence in neurodevelopmental disorders: the use of

A novel de novo MTOR gain-of-function variant in a patient with

DECIPHER: Supporting the interpretation and sharing of rare

PDF) Massively parallel identification of functionally

Superenhancers as master gene regulators and novel therapeutic

Pathogenic variants detected by RNA sequencing in Cornelia de

Neurodevelopmental disease genes implicated by de novo mutation

De novo variants in genes regulating stress granule assembly

Phenotype and genotype in 52 patients with Rubinstein–Taybi

Targeting de novo loss-of-function variants in constrained disease
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