Associated Papers
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.
Zaki MS et al.
Journal of Human Genetics, 2024
New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.
Rodríguez-García ME et al.
Neuromuscular Disorders : Nmd, 2021
Select a paper to view details