Associated Papers
EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery.
Wijeratne HRS et al.
Biorxiv : the Preprint Server for Biology, 2026
EXOSC3 S1-domain variants implicated in PCH1b alter RNA exosome cap subunit abundance and thermal stability disrupting rRNA processing and targeting of AU-rich mRNA.
Runnebohm AM et al.
Biorxiv : the Preprint Server for Biology, 2025
40501579 (PubMed )
Supplement: media-1.pdf
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D et al.
Cerebellum (london, England), 2024
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.
Le Duc D et al.
European Journal of Medical Genetics, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
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