(PDF) Identification of de novo EP300 and PLAU variants in a
Por um escritor misterioso
Last updated 22 fevereiro 2025
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CIMB, Free Full-Text
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Variant recurrence in neurodevelopmental disorders: the use of
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A novel de novo MTOR gain-of-function variant in a patient with
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DECIPHER: Supporting the interpretation and sharing of rare
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PDF) Massively parallel identification of functionally
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Superenhancers as master gene regulators and novel therapeutic
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Pathogenic variants detected by RNA sequencing in Cornelia de
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Neurodevelopmental disease genes implicated by de novo mutation
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De novo variants in genes regulating stress granule assembly
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Phenotype and genotype in 52 patients with Rubinstein–Taybi
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Targeting de novo loss-of-function variants in constrained disease
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