bioRxiv / medRxiv
open access
Comprehensive in silico analysis reveals candidate regulatory mechanisms underlying selective cerebellar vulnerability in pontocerebellar hypoplasia
Pontocerebellar hypoplasia (PCH) is a group of ultrarare, neurodegenerative disorders characterized by cerebellar and pontine hypoplasia. Genetic analysis over the last two decades has revealed an increasing number of pathogenic variants in a wide range of broadly expressed genes functioning in RNA
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