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BRUSCO , Alfredo

Last name: BRUSCO

First name: Alfredo

2022 (v1)

Publication

Metadata-only

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Scala, Marcello Drouot, Nathalie MacLennan, Suzanna C

Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing factor, have been recently associated with a new neurodevelopmental disorder (NDD) with hypotonia,...

Uploaded on: February 14, 2024