Associated Papers
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7.
Kuroda Y et al.
Journal of Human Genetics, 2024
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype.
Chen H et al.
Neurogenetics, 2022
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli RM et al.
Nature Genetics, 2017
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