(PDF) Identification of de novo EP300 and PLAU variants in a
Por um escritor misterioso
Last updated 19 janeiro 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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